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Expert Shares Challenging Cases From Stanford

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					   N o v e m b e r 2 0 0 7 • w w w. s k i n a n d a l l e r g y n e w s . c o m                                                                       Pediatric Dermatology                           41



Expert Shares Challenging Cases From Stanford
                      BY DOUG BRUNK                                           ued to use 5% minoxidil for 6
                          San Diego Bureau                                    months with some improvement.
                                                                                 In another challenging case, a 16-
C O R O N A D O , C A L I F . — Making the correct diagno-                    year-old African American boy pre-
sis and choosing the best therapy are standard goals of                       sented with a 1-year history of a




                                                                                                                                                                                                             D R . A NNA L. B RUCKNER
dermatology practice, but sometimes that’s easier said                        rapidly enlarging, pink to brown,
than done.                                                                    scaly plaque on the right lower ex-
   At the annual meeting of the Pacific Dermatologic As-                      tremity. The lesion extended onto
sociation, Dr. Anna L. Bruckner discussed three cases to                      the thigh, shin, and toes.
illustrate that point.                                                           He had been seen by other der-
   In the first case, a 6-year-old girl with suspected loose                  matologists, and previous diagnoses A 9-year-old girl with erythropoietic




                                                                                                                                                                                                                 COURTESY
anagen syndrome was referred to Dr. Bruckner, who is di-                      included epidermal nevus and linear protoporphyria presented with waxy
rector of pediatric dermatology at Lucile Packard Chil-                       psoriasis. Topical treatment with clo- papules and plaques on her knuckles.
dren’s Hospital in Palo Alto, Calif. In this condition, the an-               betasol, calcipotriene, and tazarotene




                                                                                                                                                                                                             P HOTOS
agen hairs are loosely anchored into the scalp so that the                    led to minimal improvement, but the patient was con-            The girl was healthy
hair will fall out with very minor trauma. The hair is short,                 cerned that he was developing significant postinflamma- and described one re-
sparse, and seldom cut. It typically is seen in blond girls                   tory hyperpigmentation.                                      mote episode of burn- Scaly plaque is seen on the
aged 2-5 years, but can affect boys and brunettes as well.                       Close examination of the skin change revealed a thread- ing hands following a right lower extremity of a
   Many of the girl’s friends at school “had long, flowing                    like hyperkeratotic border. Biopsy of this area showed a hike several years be- 16-year-old boy diagnosed
hair and she wanted to see if there was something we                          cornoid lamella, which is seen in porokeratosis.             fore. She was on naprox- with linear porokeratosis.
could do about her hair,” Dr. Bruckner said. She did a gen-                      Ultimately, Dr. Bruckner diagnosed linear porokerato- en and ranitidine, which
tle hair pull test and only two hairs                                                                  sis, which presents in infancy or had been prescribed by the rheumatologist as treatment
came out. The girl’s hair was very                                            When skin                childhood. The lesions follow the for the redness and swelling.
short and had a matted appearance                                             conditions lead to       line of Blaschko.                      Her family history was unremarkable. “She had no
in the back.                                                                  social isolation,           “The presumed pathogenesis is muscular weakness or abdominal pain,” Dr. Bruckner
   Dr. Bruckner prescribed 5% mi-                                             we need ‘parents         dysregulation of the keratinocytes, said. “The work-up by the rheumatologist was negative
noxidil lotion and scheduled a 3-                                             who are willing to       which leads to premature apopto- for autoimmune disease.”
month follow-up visit. On follow-                                             be advocates for         sis of keratinocytes,” said Dr.        Clinical exam revealed a few waxy papules and plaques
up the girl’s hair was fuller but it                                          their children.’         Bruckner, also assistant professor distributed over the knuckles. Her hands also had a slight-
remained short and gentle hair                                                                         of dermatology and pediatrics at ly weather-beaten appearance. A skin biopsy showed cuffs
pull tests remained negative.                                                 DR. BRUCKNER             Stanford (Calif.) University. “The of hyaline material around the superficial blood vessels in
   “We obtained some additional                                                                        clinical concerns are for cosmesis the upper dermis, suggesting a diagnosis of erythropoiet-
history,” Dr. Bruckner recalled. “Her nails were thin, of-                    and the potential for developing squamous cell carcino- ic protoporphyria (EPP). Confirmatory studies demon-
ten peeled, and never required trimming. She had no his-                      ma within the lesion.”                                       strated that the patient had elevated total red blood cell por-
tory of dental anomalies, and she’d had a coarse, deep                           Treatments include the use of topical retinoids, im- phyrins with a predominance of free protoporphyrin.
voice since age 2. Her mother said that she looked dif-                       iquimod, and fluorouracil. Destructive therapies include        EPP is the most common type of porphyria in children.
ferent from her siblings.”                                                    cryotherapy, electrodesiccation, laser ablation, and exci- It presents between 1 and 6 years of age and symptoms
   She also had sparse lateral eyebrows, a pear-shaped                        sion. “However, in many of these cases recurrence of the include burning, stinging, redness, and edema, which all
nose, and a thin upper lip.                                                   lesion is common and all of these treatments have po- occur after sun exposure.
   The combination of short, sparse hair and abnormal                         tential adverse effects,” she noted. “This raises the ques-     The condition is caused by a deficiency of ferro-
facial features led Dr. Bruckner to consider tri-                             tion: Is treatment necessary?”                               chelatase, which leads to accumulation of protopor-
chorhinophalangeal syndrome (TRPS) type 1 as the di-                             After the diagnosis was made they tried a course of im- phyrin IX.
agnosis. An x-ray of the girl’s hand performed after her                      iquimod. “The boy did not feel that there was any im-           Treatment involves sun avoidance, sunscreens, and
follow-up visit revealed cone-shaped epiphyses of the pha-                    provement, and he developed significant postinflamma- beta-carotene 30-150 mg/day.
langes, which confirmed the diagnosis. TRPS type 1 is an                      tory hyperpigmentation,” she said.                              The girl developed a sense of social isolation because
autosomal dominant disorder characterized by craniofa-                           In this case, Dr. Bruckner and her associates ultimate- she attended a school where the children ate lunch and
cial and bony abnormalities that include sparse, slow-                        ly decided that the best therapy was no therapy, but they played outside. “She had to eat lunch off in a corner by
growing hair and thin lateral eyebrows, a pear-shaped                         continue to monitor the lesion for worrisome changes. herself, so she really was not able to interact with her
nose, elongated philtrum and thin upper lip, prominent                           This decision “was controversial, but it was a decision peers when she was at school,” Dr. Bruckner said. “This
ears, and cone-shaped epiphyses of the phalanges.                             that was made with the family,” she said. “It’s something was very distressing for her. In addition, the beta-carotene
   Variable findings include short stature (the patient was                   that they’re comfortable with at this point.”                pills were large and difficult to swallow.”
in the 25th percentile for height), nail abnormalities, teeth                    The third case Dr. Bruckner discussed was that of a          Luckily, she said, the girl had a “tenacious” mother who
abnormalities, and a deep voice. The condition is caused                      9-year-old girl who was referred by a rheumatologist for worked with school officials to create opportunities for
by mutations in the TRPS1 gene.                                               evaluation of possible dermatomyositis. The patient had her daughter to socialize in shaded or indoor areas dur-
   Although there is no specific treatment for TRPS type                      a 4-month history of intermittent redness and swelling ing lunch and recess.
1, the parents were happy to better understand why their                      of the hands that worsened after prolonged outdoor ac-          “We need to have parents who are willing to be advo-
daughter’s hair failed to grow normally. She has contin-                      tivities.                                                    cates for their children,” Dr. Bruckner said.                ■



Hemangioma Treatment Does Not Affect Infant Bone Density
C H I C A G O — Bone density was no dif-                  dren’s Mercy Hospitals and Clinics in       The average treatment dose was 2.2                     (0.6 g/m2) for both the treatment and
ferent in children who were treated with                  Kansas City, Mo.                          mg/kg per day of prednisolone. The av-                   control groups. The average total bone
oral glucocorticoids for hemangiomas of                     To assess the possi-                                        erage body mass in-                  mineral density also was the same for
infancy than it was in healthy controls,                  ble impact of sys-        Oral glucocorticoids are            dex was approxi-                     both groups of children (0.8 g/m2), and no
based on data presented in a poster at the                temic glucocorticoids                                         mately 16 kg/m2 for                  significant differences appeared in the tib-
annual meeting of the Society for Pediatric               on the density of         considered first choice for         both the treatment                   ial ultrasound measurements between the
Dermatology.                                              children’s bones, Dr.     the treatment of infant             and control groups.                  two groups.
   Although oral glucocorticoids are con-                 Nopper and her col-                                              The researchers                      The results complement findings from
sidered the first choice of medication for                leagues compared 35       hemangiomas, but                    measured the chil-                   other studies that have shown that the use
the treatment of infant hemangiomas,                      children (mean age        concerns persist about the          dren’s bone density                  of corticosteroids for the treatment of he-
concerns persist about the risk that these                44 months) who re-                                            after they had been                  mangiomas in early childhood does not
children will develop osteoporosis be-                    ceived glucocorti-        risk for osteoporosis.              off treatment for a                  prevent children from catching up in
cause glucocorticoids may prevent the                     coids for heman-                                              period of at least 1                 growth and achieving normal adult
formation of new bone, wrote Dr. Amy                      giomas for an average of 8.5 months with year. The results showed that the average                 height, noted Dr. Nopper.
J. Nopper, a dermatologist at the Chil-                   35 controls.                              spinal bone mineral density was the same                                              —Heidi Splete