NOVEMBER 2009 • WWW.SKINANDALLERGYNEWS.COM PEDIATRIC DERMATOLOGY 33 See Ash Leaf Macules, Think Tuberous Sclerosis

BY DOUG BRUNK pulmonary lymphangiomyomatosis, said macules, two or more neurofibromas

Dr. Siegel. IEGEL or one or more plexiform neurofibro- S P ORTLAND, ORE. — If an infant pre- Minor clinical criteria include multiple mas, freckling in the axilla and inguinal sents with at least three hypopigmented randomly distributed pits in dental AWN region (Crowe’s sign), tumor of the . D R

macules, think tuberous sclerosis. enamel, hamartomatous rectal polyps, D optic nerve pathway, two or more Tuberous sclerosis is described as a tri- bone cysts, cerebral white matter radial Lisch nodules (iris hamartomas), and ad of neurologic impairment, multisys- migration lines, gingival fibromas, non- distinctive osseous lesions. tem hamartomas, and skin findings (such renal hamartoma, retinal achromic Café-au-lait macules, the hallmark as ash leaf macules and facial angiofi- patch, “confetti” skin lesions, and multi- clinical feature, are present in nearly all HOTOS COURTESY

bromas). The disease is of autosomal ple renal cysts. P cases. The size is age dependent, with dominant inheritance, with an incidence Current treatments for the facial an- Recurrence of the vesicular phase of macules typically exceeding 5 mm in of 1:6,000 to 1:10,000. Spontaneous mu- giofibromas include pulsed dye laser and incontinentia pigmenti (shown on an prepubertal children and 15 mm in post- tation occurs in 50%-75% of cases. pulsed KTP (532 nm) laser. “Some peo- infant’s leg) typically lasts 1-2 weeks. pubertal children. Ash leaf spots or hypopigmented mac- ple use a CO2 laser or the erbium:YAG “They often appear in the first few ules occur in 90% of patients with the laser to try and flatten down the lesions,” streaks along the lines of Blaschko in a months of life and increase in number disease, Dr. Dawn Siegel said at the an- Dr. Siegel said. so-called “marble-cake pattern,” she said. over the first couple of years of life,” Dr. nual meeting of the Pacific Dermato- Studies of oral and topical rapamycin Cutaneous findings in stage IV typi- Siegel said. logic Association. They can range in size are underway after a published case re- cally involve atrophy and hypopigmen- Axillary or inguinal freckling tends to from 1 to 12 cm in diameter and “are port demonstrated that the agent signif- tation that may be subtle. Affected in- present later in childhood, while neu- rounded at one end and tapered at the icantly improved angiofibroma lesions in fants may have a lack of hair along the rofibromas begin to appear in child- other, resembling the leaf of an ash tree. a patient with tuberous sclerosis complex lines of Blaschko. hood or later. “They are not usually They can vary quite a bit in their pre- who took rapamycin after undergoing re- Recurrence of the vesicular phase present in infancy,” she said. “They in- sentation. In some cases, they present as nal transplantation (Br. J. Dermatol. may occur, but this typically lasts only crease in number in puberty and during confetti macules, which are only 1-2 mm 2008;159:473-5). 1-2 weeks and is often preceded by a vi- pregnancy.” in diameter,” she said. “This would be exciting, because an- ral illness. “Sometimes these lesions are Plexiform neurofibromas present in If an infant presents with more than giofibromas are so disfiguring and treat- mistaken for herpes zoster,” Dr. Siegel about 25% of cases in infancy. They can three hypopigmented macules, she rec- ment has been frustrating,” she said. noted. have associated hypertrichosis and hy- ommends screening evaluations, which Additional findings of incontinentia perpigmentation, and can run along the could include a renal ultrasound, an eye Incontinentia Pigmenti pigmenti may include scarring alopecia, lines of nerves. “It’s difficult to excise exam, and a cardiac echocardiogram. “I Dr. Siegel went on to discuss inconti- most commonly on the vertex; conical or them for that reason,” she said. usually reserve head MRI or CT for ba- nentia pigmenti, which is caused by a ge- peg-shaped teeth; absence of teeth; nail Plexiform neurofibromas also can be bies who are developing seizures, or nomic rearrangement of the gene for nu- dystrophy; and abnormal sweating. painful and, although rare, there is a risk who have a positive finding on one of clear factor kappa B essential modulator “The management of incontinentia that they will develop a malignant pe- the other screening tests, or if I have a and has an incidence of 1:40,000. The pigmenti in the newborn period should ripheral nerve sheath tumor. high clinical suspicion,” said Dr. Siegel, skin disorder is marked by four stages focus on skin care with emollients and “Because they’re difficult to com- assistant professor of dermatology and that occur in most patients. monitoring for skin infection,” she said. pletely excise, it’s always hard to know pediatrics at Oregon Health and Science In stage I, vesicles in linear streaks fol- “Topical steroids can sometimes be when they develop to cancer in the University, Portland. low the lines of Blaschko. These lesions beneficial for symptomatic relief in the plexiform neurofibroma, or if the lesion Infantile spasms, the most common are present at birth in 50% of cases and verrucous phase. Referral to an oph- is just growing,” she noted. presenting neurologic sign, tend to de- wax and wane for up to 1 year. In stage thalmologist for a retinal exam is im- “There are a lot of clinical trials go- velop by 4-5 months of age in about 70% II, verrucous-hyperkeratotic streaks usu- portant. If neurologic symptoms are ing on right now looking at various of patients. ally appear at 2-6 months of age. Stage present, then evaluation includes an medical, nonsurgical treatments for Establishing a definitive diagnosis of III is marked by hyperpigmentation in EEG and an MRI,” she added. plexiform neurofibromas,” Dr. Siegel tuberous sclerosis requires the presence added. of two major clinical diagnostic criteria Neurofibromatosis Type 1 Dermatologic exams for children or one major and two minor criteria. Dr. Siegel concluded her presentation by with NF1 should include evaluation for Major criteria include facial angiofi- discussing neurofibromatosis type 1 the presence of café-au-lait spots, neu- bromas or forehead plaque, nontrau- (NF1), a multisystem disorder caused by rofibromas, plexiform neurofibromas, matic ungual fibroma, three or more a mutation of a gene on the long arm of and skinfold freckling. “Enlarging or hypomelanotic macules, shagreen patch chromosome 17 that occurs in about 1 in disfiguring plexiform neurofibromas (most commonly on the torso and 4,000 births. may require referral to a surgical spe- chest), multiple retinal nodular hamar- According to the 1988 National Insti- cialist to discuss debulking or to a spe- tomas, cortical tuber, subependymal tutes of Health Consensus Develop- cialty center for enrollment in a clinical nodule, subependymal giant cell astro- Viral illness can precede recurrence ment Conference, a diagnosis of NF1 trial,” she said. cytoma, single or multiple cardiac rhab- of the vesicular phase of incontinentia requires two or more of the following Dr. Siegel disclosed having no relevant domyoma, renal angiomyolipoma, and pigmenti (shown on an infant’s arm). clinical features: six or more café-au-lait conflicts of interest. ■ New Wound Dressing Reduces Pain During Changes

BY KERRI WACHTER swells and retains moisture, which keeps the environ- dressing changes. Dressing application was considered ment moist, said coauthor Dr. Mary Regan, who is the by the patients to be “easy” or “very easy” for most of P HILADELPHIA — A new dressing using a lipido- director of clinical affairs for Hollister Wound Care (a the dressing changes (95%). Likewise, dressing removal colloid contact layer reduced pain during dressing joint venture between Hollister Incorporated and Lab- was considered to “easy” or “very easy” for almost all changes and improved quality of life for patients with oratoires URGO), which markets and sells the dressing of the dressing changes (98%). Dry dressing removal epidermolysis bullosa. as the Restore family in the United States. The study was was recorded for 87% of dressing changes; in 13% of The 20 patients involved in the trial reported most of funded by Laboratoires URGO, which markets and dressing changes saline soaking was used for removal. the dressing changes to be pain-free (91%). The re- sells the dressing (UrgoCell, Urgotul) in Europe. Roughly half of patients (55%) reported that using maining 9% of dressing changes were reported as mild This open-label, single-center study involved 11 adults the experimental dressing had improved their quality to moderately painful, according to the results and 9 children with simplex or dystrophic epidermol- of life, due to easier dressing removal. presented in a poster at the annual meeting of the ysis bullosa. Skin lesions were managed with the lipi- “Most adults and children felt less apprehensive Society for Pediatric Dermatology. do-colloid contact layer dressing for a maximum of 4 about the procedure than they had with their usual The contact layer consists of petrolatum and car- weeks. At dressing changes, the researchers assessed dressing,” the researchers wrote. All but one patient said boxymethylcellulose on a mesh. When exudate comes pain and quality of life. that they would use the experimental dressing to in contact with the dressing, the carboxymethylcellulose All 20 patients completed the trial, with a total of 152 manage their lesions in the future. ■