Disturbances of Pigmentation - PowerPoint by SNz207M

VIEWS: 550 PAGES: 111

									Disturbances of
 Pigmentation
   Rick Lin, D.O.
                     Melanin
   primary pigment producing brown coloration
   Tyrosine – tyrosinase –melanin- this occurs in
    the melanosomes of melanocytes
   Then the melanosomes are transferred from the
    melanocyte to a group of keratinocytes called
    the epidermal melanin unit
   Variations in skin color is related to the number
    of melanosomes, the degree of melanization,
    and the distribution of the epidermal melanin
    unit
Pigmentary Demarcation Lines
   Can be divided into five categories:
   Group A- lines along the outer upper arms
    with variable extension across the chest
   Group B-lines along the posteromedial aspect
    of the lower limb
   Group C-Paired median or paramedian lines
    on the chest, with midline abdominal
    extension
   Group D-medial, over the spine
   Group E-bilaterally symmetrical, obliquely
    oriented, hypopigmented macules on the
    chest
Pigmentary Demarcation Lines
   More than 70% of blacks have one or
    more lines
   These are much less common in whites
   Type B lines often appear for the first time
    during pregnancy
         Normal Pigmentation
   Normal skin pigmentation is influenced by:
     -the degree of vascularity
    -the amount & location of melanin
    -the presence of carotene
    -the thickness of the horny layer
            Melanin Production
    The amount produced is dependent on:
    -genetics
    -the amount and the wavelengths of ultraviolet
     light received
    -the amount of melanocyte-stimulating
     hormone(MSH) secreted
    - the effect of melanoccytestimulatingg chemicals
     like furocoumarins (psoralens)
          Hemosiderin
        Hyperpigmnetation
  Pigmentation due to deposits of hemosiderin
   occurs in:
 -purpura
 -hemochromatosis
 -hemorrhagic diseases
 -stasis ulcers
** difficult to distinguish from postinflammatory
   dermal melanosis clinically
            Postinflammatory
            Hyperpigmentation
   Any inflammatory condition can cause either
    hypopigmentation or hyperpigmentation
   Also may be a complication of chemical peels,
    dermabrasion, laser therapy, or liposuction
   Histologically, there is melanin in the upper
    dermis and around upper dermal vessels,
    located primarily in macrophages
    (melanophages)
Postinflammatory
hyperpigmenation
           Postinflammatory
            hyperpigmentation
            following resolution of
            lymphocytoma cutis
            on the cheek of a
            black child
    Industrial Hyperpigmentation
   Occurs in coal miners, anthracene
    workers, pitch workers, etc
   Pigmentation of the face may occur from
    the incorporation in cosmetics of
    derivatives of coal tar, petrolatum, or
    picric acid, mercury, lead, bismuth, or
    furocoumarins (psoralens)
            Systemic Diseases
   Syphilis, malaria, pellagra, and diabetes
   Addison’s disease- diffuse melanosis pronounced
    in the axillae and palmar creases, and nipples
    and genitals, and buccal mucosa
   Diabetes produces diffuse bronzing of the skin
   ** patients with virilizing adrenal tumors usually
    develop hyperpigmentation and hypertrichosis
             Systemic Diseases
   Nelson’s syndrome (a         Vitamin B12
    pituitary MSH-producing
    tumor)                        deficiency
   Pheochromocytoma             Kwashiorkor
   Hemochromatosis              Vitamin A deficiency
   Amyloidosis
                                 Primary biliary
   Scurvy
                                  cirrhosis (triad=
   Pregnancy
   Menopause
                                  hyperpigmentation,
   Porphyria cutanea tarda       pruritis, xanthomas)
        Hemochromatosis
                      Usually are present:
Characterized by:
                       Cirrhoisis
 Gray-brown
                       Hypogonadism
  mucocutaneous
  hyperpigmentation    Liver cirrhosis

 Diabetes mellitus

 hepatomegaly
            Hemochromatosis
   Skin pigmentaion is           The actual pigmentation
    usually generalized            is caused by increased
   But, more pronounced           basal-layer melanin
    on face, extensor             Mucous memebranes
    aspect of the forearms,        are pigmented in up to
    backs of the hands, and        20% of patients
    the geniocrural area          Koilonychia is present in
   Iron is deposited in the       50%
    skin                          Localized ichthyosis in
   Iron is present as             40%
    granules around blood         Alopecia is common
    vessels and sweat
    glands and within
    macrophages
            Hemochromatosis-tx
   Phlebotomy until
    satisfactory iron levels
    are found
   Extracorporeal chelation
    has also been used
    successfully
   Associated DM requires
    medical tx
   Long-term complications
    are cirrhosis and then
    hepatomas
                       Melasma
   Brown patches, sharply           Tends to affect the
    demarcated, typically on          darker-complected
    the malar prominences            It may also be found on
    and forehead                      the forearms
   The three clinical patterns      Occurs at pregnancy and
    are: centrofacial, malar,         at menopause
    mandibular                       It may also be seen in
                                      ovarian disorders and
   Increased pigment may             other endocrine disorders
    simultaneously occur             Most frequently 90% of
    around the nipples and            the time seen in women,
    external genitalia                10% in men
                                   Tx- avoid sunlight, and
            Melasma                 a complete sun block
                                    with broad-spectrum
                                    UVA coverage should be
                                    used daily
   Strong association with        Kligman’s formula
    the use of birth control        (Triluma)
    pills or dilantin
                                   > then 4%
   Discontinuing the               hydroquinone may be
    contraceptives rarely           needed
    clears the pigmentation,
    and it may last for years      Side effects of this is
    after discontinuing them.       ochronosis and satellite
                                    pigmentation
   Melasma of pregnancy
    usually clears within a        Jessner’s solution,
    few months of delivery          glycolic acid
                                    peels,azelaic acid, kojic
                                    acid, and cystamine and
                                    buthionine sulfoximine
                                    are other options
Melasma
Melasma
Melasma
      Acromelanosis Progressiva
   AKA acropigmentation             By age 4 or 5 the
   A progressive pigmentary          perineum,
    disorder first described in       extremities, and areas
    a Japanese infant                 of the head and neck
   Characterized by diffuse          were involved
    black pigmentation on the
    dorsum of all the fingers        Epileptiform seizures
    and toes                          occurred
   Pigmentation became              History revealed
    progressively more                consanguinity
    widespread and more
    pigmented
     Pigmented Anomalies of the
            Extremities
   Acropigmentation of Dohi         Patients develop
   Found to affect                   progressive pigmented &
    individuals from Europe,          depigmented macules
    India, Caribbean                 Often mixed in is a
   First described in Japan in       reticulate pattern
    12 patients
                                     Many believe this to be a
   AKA dyschromatosis
    symmetrica hereditaria or         variation of
    symmetrical                       acropigmentation of
    dyschromatosis of the             Kitamura
    extremities
Reticular Pigmented Anomaly of
          the Flexures
   It begins age 20 to 30      Many authors believe it is
                                 a spectrum of reticulate
    yrs and progresses           acropigmentation of
    gradually                    Kitamura
   Unknown etiology            Another manifestation of
                                 this disorder is familial-
   AD with variable             rocacea-like dermatitis
    penetrance and               with warty keratotic
    expressivity, and            plaques on the trunk and
                                 limbs
    delayed onset
                                There is no treatment
   Reticular pigmented anomaly of the flexures
   J. B. Howell and R. G. Freeman

   Reticular pigmented anomaly of the flexures (Dowling-
    Degos' anomaly) is a rare, benign, new genodermatosis
    that has recently evolved from independent observations
    and studies by several dermatologists. Because of its
    favorable prognosis, differentiation of this benign
    disorder from acanthosis nigricans, a cutaneous marker
    of possible or existing internal malignant disease, is
    highly important. Careful clinical appraisal of the
    eruption in correlation with the characteristic microscopic
    features makes the diagnosis simple and
    straightforward.
                    Histology
   Distinctive elongation,
    tufting, and deep
    hyperpigmentation of
    therete ridges, with
    protrusion of similar
    tufts even from the
    sides of the follicles
    Reticulate Acropigmentation of
               Kitamura
   AD                          One report of a pt with
                                 bony abnormalities
   Characterized by             consisting of absence of
    linear palmar pits and       terminal phalanges of the
    pigmented macules 1-         second, third, and fourth
    4 mm in diameter on          toes
    the volar and dorsal        Some tx success has
    aspects of the hands         been reported using
    and feet                     axelaic acid ointment
      Dermatopathia Pigmentosa
             Reticularis
   Consists of a triad of        An autosomal
    generalized reticulate
    hyperpigmentation,             dominant inheritance
    noncicatricial alopecia,       pattern has been
    and onychodystrophy            reported.
   Other associations:
    adermatoglyphia,
    hypohidrosis or
    hyperhidrosis,
    palmoplantar
    hyperkeratosis, and
    nonscarring blisters on
    dorsa of hands and feet.
Dermatopathia Pigmentosa
       Reticularis
Transient Neonatal Pustular
        Melanosis
                                Histologically, there are
   Infants develop 2-           intracorneal or
    3mm macules,                 subcorneal aggregates
                                 of predominantly
    pustules, and                neutrophils, but
    ruptured pustules at         eosinophils may also be
    birth, predominantly         found
    involving the face          Dermal inflammation is
   Pigmentation may last        composed of an
                                 admixture of neuts and
    for weeks or months          eos
    after the pustules are
                                Differential dx: ETN,
    healed                       neonatal acne, &
                                 acropustulosis of
                                 infancy
Transient Pustular Neonatal
        Melanosis
Transient Neonatal Pustular
        Melanosis
    Peutz-Jeghers                  Associated polyposis
                                    involves the small
                                    intestine preferencely
   Characterized by
    hyperpigmented                 But, hamartomatous
    macules on the lips and         polyps of the stomach
    oral mucosa and                 and colon may occur
    polyposis of the small         Symptoms of
    intestine                       hamhartomas of the
   Dark brown or black             small intestine may
    macules appear                  cause repeated bouts of
    typically on the lips,          abdominal pain and
    especially the lower lip,       vomiting, and
    in infancy or childhood         intussusception
   Similar lesions may
    appear on buccal
    mucosa, tongue,
    gingiva, and genital
    mucosa
Peutz-Jeghers syndrome
              Lip lentigenes in an
               adolescent with
               Peutz-Jeghers
               syndrome
P-J syndrome
Pathology
              Reihl’s Melanosis
   Photosensitivity,            Characteristic feature is
    phototoxic dermatitis         spotty light to dark brown
                                  pigmentation
   Begins with pruritis,
    erythema, and                Most intense on the
                                  forehead, malar regions,
    pigmentation, gradually       behind the ears, on the
    spreads, then becomes         sides of the neck, on
    stationary                    other sun-exposed areas
   Melanosis occurs mostly      Also circumscribed
    in women and develops         telangiectasia and
    over months                   temporary hyperemia
                  Tar Melanosis
   An occupational                 Small, dark, lichenoid,
    dermatosis occurring             follicular papules become
    among tar handlers after         profuse on the
    years of exposure                extremities, namely the
   Severe, widespread               forearms
    itching develops, followed      Bullae are sometimes
    by reticular pigmentation,       observed
    telangiectases, and a           Represents a
    shiny appearance of the          photosensitivity or
    skin                             phototoxicity induced by
   There is a tendency for          tar
    hyperhidrosis
         Universal Acquired
       Melanosis(Carbon Baby)
   Ruiz-Maldonado            EM showed a negroid
    reported a case of a       pattern in the
    Mexican child, born        melanosomes of the
    white, who                 epidermal
    progressively became
    black                      melanocytes and
                               keratinocytes
   Developed
    pigmentation of the       Melanocytes were not
    palms, soles, mucous       increased in number
    membranes
  Periorbital Hyperpigmentation
1.) Familial periorbital   2.) Erythema
  melanosis (AD)             dyschromicum
                             perstans is a rare
 Usually involves all
                             cause
  four eyelids, may
                           3.) Familial dark circles
  extend to involve the      around the eyes,
  eyebrows and cheeks        frequently seen in
                             individuals of
                             Mediterranean
                             ancestry
        Metallic Discolorations
   Pigmentation from deposition of fine
    metallic particles in the skin
   Metal may be carried to skin from the
    blood stream or may permeate into it from
    surface applications
                                    Local tx with a silver-
                                     containing product may
            Argyria                  produce argyria
   Localized or widespread         Examples: conjunctivae,
    slate-colored                    from eye drops; a
    pigmentation                     wound from
                                     sulfadiazine cream,
   Due to silver in the skin        earlobes from silver
   Most noticeable in parts         earings; and from silver
    exposed to sunlight              acupuncture needles
   Tissue silver may               Can also occur from
    stimulate melanocytes            occupational exposure,
   Initially discoloration is       usually siversmiths
    hardly perceptible, having      In localized exposures,
    only a faint blue color,         the appearance may be
    but a slate-gray color           separated by many
    develops with time               years from the
                                     exposure
                   Histology
   Systemic and localized argria have the same
    features
   Normal appearing skin under low power
   Fine black granules in the basement zone of the
    sweat glands,blood vessel walls, d-e junction,
    and arrector pili muscles
   Unstained biopsy section by darkfield
    illumination demonstrates silver granules
    outlining basement membrane of the epidermis
    and the eccrine sweat glands
                     Bismuth
   Rarely associated with deposition of metallic
    particles in gums when used IM or orally
   Also known as the bismuth line
   Presence of stomatitis or peridontitis increased
    the risk
   Generalized cutaneous discoloration, in addition
    to oral mucous membrane and conjunctival
    pigmentation resembling argyria has occurred
    but has not be reported in the last 50 years
                    Lead
   Chronic lead poisoning can produce a
    “lead hue” with lividity and pallor
   Deposit of lead in the gums may occur
    and is known as the “lead line”
                     Iron
   In the past, soluble iron compounds were
    used in the treatment of allergic contact
    dermatitides
   In eroded areas iron was sometimes
    deposited in the skin, like a tattoo
   Use of Monsel’s solution can produce
    similar tattooing
        Gold

   Chrysiasis may be induced by parenteral
    administration of gold salts, usually for the
    treatment of rheumatoid arthritis
   More commonly recognized in white patients
   A mauve, blue, or slate/gray pigmentation
    develops initially on the eyelids, spreading to
    the face, dorsal hands, and other areas
   Severity is related to the total dose received,
    rare < a dose of 20 mg/kg of elemental gold
                   Mercury
   Mercurial pigmentation in the skin is rare,
    especially since the use of mercurials has
    been strictly controlled
   Most common presentation is
    subcutaneous nodules that result from
    accidental implantation of elemental
    mercury from a thermometer into skin
               Canthaxanthin
   Orange-red pigment canthaxanthin is present in
    many plants ( notably algae and mushrooms)
    and in bacteria. Crustaceans, sea trout, and
    feathers
   When ingested for the purpose of simulating a
    tan, its deposition in the panniculus imparts a
    golden orange hue to the skin
   Stools become brick red and the plasma orange,
    and golden deposits appear in the retina
           Dye Discoloration
   Blue hands from accidental dyeing were
    reported by Albert in 1976
   A man’s hands were dyed as a result of
    warming them in his armpits while
    wearing a new blue flannel shirt
   The dye was insoluble in water, but
    soluble in sweat
                  Rubeosis
   A rosy coloration of the face occurring in
    young people with uncontrolled diabetes
    mellitus
   May be associated with xanthochromia to
    produce a “peaches and cream”
    complexion
                     Vitiligo
   Usually begins in childhood or young adulthood
   50% of cases begin before age 20
   Prevalence ranges from 0.5% to 1%
   Females are disproportionately represented
    among patients seeking medical care, it is not
    known if it is actually more common in females
    or simply because they more often bring it to
    their physicians attention
            Clinical Features
   An acquired pigmentary anomaly of the skin
   Manifested by depigmented white patches
    surrounded by a normal or a hyperpigmented
    border
   There may be intermediate tan zones or
    lesions , halfway between the normal skin
    color and depigmentaton-so-called trichrome
    vitiligo
   Hairs in vitiliginous areas usually become
    white also
                    Types
   Localized or focal(including segmental)
   Generalized
   Universal
   Acrofacial
                      Vitiligo
   Generalized is the most common
   Involvement is symmetrical
   Most commonly involving the face, upper chest,
    dorsal aspects of the hands, axillae, and groin
   Tendency for skin around orifices to be affected
    (eyes,nose, mouth, ears, nipples, umbilicus,
    penis, vulva, anus)
   Lesions also favor areas of trauma (elbows and
    knees)
Generalized Vitiligo
             Involvement of
              perineal and inguinal
              skin
             Note the distinct
              borders
Acral Vitiligo
      Symmetric, Acral Vitiligo
   Left: pre-PUVA treatment
   Right:same pt shows perifollicular
    pattern of repigmentation during PUVA
    therapy
Segmental Vitiligo
              Rapidly progressing
               segmental vitiligo
             Segmental Vitiligo
   Segmental vitiligo of
    the eyebrow and
    eyelashes
Segmental Vitiligo
            Segmental vitiligo on the
             arm , neck, and chest
            Note areas of
             spontaneous follicular
             repigmentation

            Left upper back with
             partial spontaneous
             repigmentation
             Universal Vitiligo
   Applies to cases
    where the entire body
    surface is
    depigmented
              Acrofacial Vitiligo
   Type affecting the
    distal fingers and the
    facial orifices
             Childhood Vitiligo
   Shows an increase in      Poor response to
    segmental                  PUVA therapy
    presentation
   More frequent
    autoimmune or
    endocrine anomalies
   High incidence of
    premature graying in
    females
Vitiligo
       Completely
        depigmented oval
        ivory white areas with
        convex
        hyperpigmentated
        borders
Vitiligo
       Vitiligo with
        depigmentation of the
        lips
       Chemical Depigmentation
   Chemical
    depigmentation due
    to a germicidal
    detergent
   Pts usually improve
    with discontinuation
    of the offending
    agent
              Pathogenesis
   Three possible mechanisms have been
    proposed as inducing vitiligo are
    autoimmunity, neurohumoral factors, and
    autocytotoxicity
   No mechanism has been conclusively
    proven
                   Histology

   There is complete loss
    of melanocytes
   Usually there is no
    inflammatory
    component
                 Differential
   Morphea
   Lichen sclerosis
   Pityriasis alba
   Tinea versicolor tertiary pinta
         Treatment                Fair-skinned pts may
                                   manage their disease
   Spontaneous                    with sunblock
    repigmentation occurs         Sun protection is
    in no more than 15% to         mandatory in all pts
    25% of cases                   with vitiligo because of
   Response is slow               the loss of protection
   PUVA may actually              from UV radiation in the
    worsen the appearance          depigmented skin
    initially by pigmenting       Topical steroids may be
    surrounding skin               useful on focal or
   Cover-up                       limited lesions
    strategies(topical dyes,      Mid to super high-
    make-up, self-tanning          potency steroids are
    creams)                        often required on trunk
                                   and acral lesions with
                                   the strength tapered as
                                   the lesions respond
   If > 50% of the body surface area is affected
    by vitiligo, the pt can consider depigmentation
   This tx is permanent
   Monobenzone 20% is applied BID for 3-6
    months to residual pigmented areas
   Up to 10 months may be required
   One in six pts will experience acute dermatitis,
    usually confined to the still-pigmented areas
Vitiligo
       Partial repigmentation
        of lesions of vitiligo
        on the leg of a 14-
        year-old child at the
        end of the summer of
        sun exposure
                     Vitiligo
   Partial repigmenation
    of vitiligo following
    psorralen-ultraviolet
    light (PUVA) therapy
Vitiligo
       Permanent
        repigmentation after
        2 years of
        photochemotherapy
        (tripsoralen followed
        by sunlight exposure)
         Vogt-Koyanagi-Harada
               Syndrome
   Characterized by bilateral uveitis, symmetrical
    vitiligo, alopecia, white scalp hair, eyelashes and
    brows(poliosis, and dysacousia(diminished
    hearing)
   Occurs in thirties
   Initial or meningoencephalitic phase occurs with
    prodromata of fever, malaise, headache,
    nausea, and vomiting
   Also may have psychosis, paraplegia,
    hemiparesis, aphagia, and nuchal rididity
   Recovery is usually complete
                   VKHS

   Second phase(ophthalmic-auditory stage)
    is characterized by uveitis, dreased visual
    acuity, photopobia, and decreased
    hearing(50%)
   The convalescent phase begins 3weeks to
    3 months after it begins to improve
       Alezzandrini’s Syndrome

   Extremely rare syndrome characterized by
    a unilateral degenerative retinits
   This is followed several months later by
    ipsilateral vitiligo on the face and
    ipsilateral poliosis
   Deafness may also be present
Alezzandrini’s Syndrome
                 Leukoderma
   Postinflammatory leukoderma may result from
    inflammatory dermatoses ie:
   Pityriasis rosea, psoriasis, herpes zoster,
    secondary syphilis, and morphea, sarcoidosis,
    tinea versicolor, mycosis fungoides, scleroderma,
    and pityriasis lichenoides chronica, and leprosy
   Other causes: burns, scars, postdermabrasion,
    and intralesioal steroid injections
Leukoderma
        Postinflammatory
         hypopigmentation in
         a 4-month-old black
         child with atopic
         dermatitis
                  Leukoderma
   Postinflammatory
    hypopigmentation
    following resolution of
    guttate psoriasis
Pityriasis alba
           Ill-defined
            hypopigmented oval
            patches are generally
            seen on the face, upper
            arms, neck, and
            shoulders of affected
            persons
           It can be differentiated
            from vitiligo by its fine
            adherent scale, partial
            hypopigmentation, and
            distribution
Pityriasis alba
           White, slightly scaly
            patches with indistinct
            borders on a child’s
            cheek
Postinflammatory
hypopigmentation
                    Albinism
   A partial or complete congential absence of
    pigment in the skin, hair, and eyes
    (oculocutaneous albinism), or the eyes alone
    (ocular albinism)
   Cutaneous phenotype of the various forms is
    broad, but the ocular phenotype is reasonably
    constant in most forms
   The ocular phenotype includes decreased visual
    acuity, nystagmus, pale irides that
    transilluminate, hypopigmented fundi,
    hypoplastic foveae, and lack of stereopsis
Albinism
       This pt has light skin,
        yellowish white hair,
        and a lack of
        pigmentation in nevi
     Oculocutaneous Albinism 1
   OCA 1 results from mutations in the tyrosinase gene
   Affected pts are homozygous for the mutant gene or
    are compound heterozygotes for different mutations
    in the tyrosinase gene
   AR
   Two forms: 1) OCA 1A & OCA 1B (indistinguishable
    at birth)
   OCA 1 is most severe with complete absence of
    tyrosinase activity and complete absence of melanin
    in the skin and eyes
   Visual acuity is decreased to 20/400
   OVA 1B tyrosinase activity is reduced but not absent.
    Pts may show increase in skin,hair, eye color with
    age and can tan
                      OCA 1
   OCA 1B was originally called “yellow mutant”
    albinism
   Temperature sensitive OCA (OCA 1-TS) results
    from mutations in the tyrosinase gene that
    produce an enzyme with limited activity < 35
    degrees C and no activity below this temp. pts
    have white hair, skin, andeyes at birth, at
    puberty dark hair develops in cooler acral areas
   Top:albinism with white
    hair, pale skin, and
    translucent irides
   Bottom:ophthalmoscopic
    view of a pt with albinism
    demonstrates a pale
    fundus, poor macular
    development, and
    prominent choroidal
    vasculature
    Oculocutaneous Albinism 2
   Prevalence of 1:15,000
   Pts were named “tyrosinase-positive” albinos
   AR and mutations occur in the P gene
   P gene codes a membrane transport protein
    that is present in the melanosome membrane
   Cutaneous phenotype of OCA 2 pts is broad,
    ranging from nearly normal pigmentation to
    virtually no pigmentation
   Pigmentation increases with age, and visual
    acuity improves with age
   Prader-Willi and Angelman syndromes are
    caused by deletions in the P gene; 1% of pts
    with these syndromes also have OCA 2
     Oculocutaneous Albinism 3
   AR-caused by mutations in the tyrosine-related
    protein 1 (TRP-1), located on chromosome 9
   OCA 3 has been described only in black pts and
    is characterized by light brown hair, light brown
    skin, blue/brown irrides, nystagmus, and
    decreased visual activity
   Brown rather than black melanin is formed
              Ocular Albinism
   There are multiple forms of ocular albinism
   OA 1 may be present with lighter than expected
    skin
   It is X-linked
   Female carriers have “mud-splattered” fundi
   Macromelanosomes are found in the skin, so
    skin bx may be a helpful tool
   Many cases of AR ocular albinism have been
    reclassified as OCA 1 or OCA 2
     Syndromes Associated with
            Albinism
   Chediak-Higashsi Syndrome
   Hermansky-Pudlak Syndrome
   Griscelli Syndrome(partial albinism with
    immunodeficiency)
   Elejalde Syndrome
   Cross-McKusick-Breen Syndrome
   Cuna Moon Children
    Classification of
Oculocutaneous Albinism
          Selenium Deficiency
   Selenium deficiency in the setting of total
    parental nutrition can lead to
    pseudoalbinism
   Skin and hair pigmentation return to
    normal with supplementation
      Waardenburg’s Syndrome
   Four genotypic variants      Pts have features of
    exist:                        piebaldism, with white
                                  forelock,
   Types 1 & 3 are caused        hypopigmentation,
    by mutations in the PAX       premature graying,
    gene on chromosome 2          synophrys, congenital
   Type 2 is caused by           deafness, a broad nasal
    mutations in the MITF         root, and ocular changes
    gene on chromosome 3,         including heterochromia
    and type 4 due to             irides
    mutations in the ENDRB       Apparently, melanoblasts
    gene on chromosome 13         fail to reach the target
                                  sites during
                                  embryogenesis
                Rare, AD with variable
Piebaldism       phenotype, presenting
                 at birth
                White forelock, patchy
                 absence of skin
                 pigmenation
                Depigmented lesions
                 are static and occur on
                 the anterior and
                 posteroir trunk, mid
                 upper arm to wrist,
                 mid-thigh to mid-calf,
                 and shins
                A characteristic feature
                 is the presence of
                 hyperpigmented
                 macules within the
                 areas of lack of
                 pigmentation and on
                 normal skin
Piebaldism
Piebaldism
        Segmental white
         patch on the neck
         with a tuft of white
         hair present from
         birth
Piebaldism
        White forelock and
         patch of unpigmented
         skin in a young girl
         with piebaldism
                 Piebladism
   The white forelock arises from a triangular or
    diamond-shaped midline white macule on the
    frontal scalp or forehead
   The medial portions of the eyebrows, and
    eyelashes may be white
   Histologically, melanocytes are completely
    absent in the white macules
   Etiology is a mutation in the c-kit
    protooncogene
   Phenotypic differences seen in families is
    caused by different locations of mutations in
    the gene
   The white lesions may respond to surgical
    excision
           Idiopathic Guttate
            Hypomelanosis
   AKA leukopathica symmetrica progressiva
   Very common aquired disorder affecting women
    more frequently than men
   Usually occurs after age 40
   Lesions occur on the shins and forearms; are
    small (6 or 8mm), rarely become very numerous
    ( a dozen or two at most), and never occur on
    the face or trunk
   Lesions are irregularly shaped and very sharply
    defined, like depigmented ephelides, and are
    only of cosmetic significance
Idiopathic Guttate
 Hypomelanosis

								
To top