PEDIATRIC DERMATOLOGY Piebaldism in Children Alexandra Grob, DO; Steven Grekin, DO PRACTICE POINTS • Poliosis circumscripta (or white forelock) is commonly the only manifestation of piebaldism in children. • Affected areas of leukoderma in piebaldism are classically distributed on the central forehead, anterior trunk, and mid extremities. • The presence of congenital leukoderma should prompt a thorough skin examination and review of the patient’s medical history for evidence of ocular, auditory, and/or neurologic abnormalities. copy Piebaldism is a rare autosomal-dominant disor- negative for hearing impairment, ocular abnormali- der of melanocyte development characterized by ties, and recurrent infections. congenital poliosis and stable patches of leuko- Physical examination revealed an otherwise derma. Initially, these clinical features may be the healthynot adolescent girl with Fitzpatrick skin type I presenting signs of various syndromes or associ- and homogeneous blue eyes. Large symmetric depig- ated diseases, which should be considered in the mented patches were noted on the extensor surfaces differential diagnosis. We present the case of a of the mid legs and mid forearms (Figure). Macules 14-year-old adolescent girl with piebaldism, alongDo of baseline pigment and hyperpigmentation were with a review of the pathogenesis, diagnosis, and irregularly scattered within and at the periphery of management of this disease entity. the patches. A triangular hypopigmented patch at Cutis. 2016;97:90-92. the hairline on the mid frontal scalp hairline was accompanied by depigmentation of terminal hairs in Case Report this region. A 14-year-old adolescent girl presented with mul- A clinical diagnosis of piebaldism was made and tiple asymptomatic light-colored patches on the was discussed at length with the patient. Due to the forehead, bilateral arms, andCUTIS legs that had been pres- benign nature of the condition and patient prefer- ent since birth. The patient reported that the size ence, no therapeutic intervention was pursued. It of the patches had increased in proportion to her was recommended that she apply sunscreen daily for overall growth and that “brown spots” had gradually protection of the depigmented areas. started to form within and around the patches. She noted that her father and paternal grandfather also Comment had similar clinical findings. A review of systems was Piebaldism is a rare hereditary disorder of melanocyte development characterized clinically by the presence of congenital poliosis and leukoderma.1 The exact prevalence of piebaldism is unknown, but it has been estimated that less than 1 in 20,000 children are born with this condition.2 Poliosis circumscripta, tra- ditionally known as white forelock, may be the only manifestation in 80% to 90% of cases and is present From the Department of Dermatology, Beaumont Health, at birth.3 The white forelock typically appears in a Trenton, Michigan. The authors report no conflict of interest. triangular shape and the underlying skin of the scalp Correspondence: Alexandra Grob, DO, 1500 Eureka Rd, Wyandotte, also is amelanotic. The eyebrows and eyelashes also MI 48192 ([email protected]). may be involved.3 90 CUTIS® WWW.CUTIS.COM Copyright Cutis 2015. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. Pediatric Dermatology Large symmetric depigmented patches on the extensor sur- faces of the mid legs (A) and A B mid forearm (B). copy Characteristically, lesions of leukoderma are Rare cases of piebaldism have been reported well-circumscribed, irregular, white patches that in association with other diseases, including are often accompanied by hyperpigmented macules congenital megacolon, congenital dyserythropoi- noted on both depigmented and unaffected adjacent eticnot anemia type II, Diamond-Blackfan anemia, skin.1 The lesions are classically distributed on the Grover disease (transient acantholytic dermatosis), central forehead and anterior trunk, with exten- and glycogen-storage disease type 1a.1,6 Poliosis alone sion to the flanks, anterior mid arms, and mid legs. may be the initial presentation of certain genetic Sparing of the dorsal midline, hands, feet, and Doperi- syndromes, including Waardenburg syndrome (WS) orificial area is characteristic.1 and tuberous sclerosis; it also may be acquired in Depigmented patches typically are nonprogres- the setting of several conditions, including vitiligo, sive and persist into adulthood. Additional hyper- Vogt-Koyanagi-Harada syndrome, Alezzandrini syn- pigmented macules may develop at or within the drome, alopecia areata, and sarcoidosis.3 margins of the white patches. Partial or com- Notably, the diagnosis of piebaldism should plete repigmentation may occur spontaneously or alert the clinician to the possibility of WS, an after trauma in some patients.2 Some children may autosomal-dominant disease characterized by a con- develop café au lait lesionsCUTIS and may be misdiagnosed genital white forelock, leukoderma in a piebaldlike as concurrently having neurofibromatosis type I distribution, lateral displacement of the medial and piebaldism. If neurofibromatosis type I is sus- canthi, a hypertrophic nasal root, heterochromia pected, patients should be thoroughly evaluated iridis, and progressive sensorineural hearing loss.7 for other diagnostic criteria of this syndrome, Four clinical subtypes of WS have been described, as there may be cases of coexistence and overlap with various gene mutations implicated: type 1 is with piebaldism.4 the classic form, type 2 lacks dystopia canthorum Piebaldism is an autosomal-dominant inherited and has a stonger association with deafness, type 3 disorder and most commonly develops as a conse- is associated with limb abnormalities, and type 4 quence of a mutation in the c-kit proto-oncogene is associated with congenital megacolon. A case of (located on chromosome arm 14q12), which affects WS type 1 has been described in association melanoblast migration, proliferation, differentia- with facial nerve palsy and lingua plicata, 2 main tion, and survival.2 In piebaldism, the site of muta- features of Melkerson-Rosenthal syndrome.8 tion within the gene correlates with the severity of Depigmentation in WS is caused by the absence of the phenotype.5 Melanocytes are histologically and melanocytes in the affected areas as well as failed ultrastructurally absent or considerably reduced in migration of melanocytes to the ears and eyes.3 depigmented patches but are normal in number in Waardenburg syndrome may be distinguished from the hyperpigmented areas.2 piebaldism by characteristic facial features of the WWW.CUTIS.COM VOLUME 97, FEBRUARY 2016 91 Copyright Cutis 2015. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. Pediatric Dermatology disease and should prompt a thorough ocular and It requires fewer donor sites and, therefore, auditory examination in affected patients.9 results in less scarring.15 Additionally, use of the Although not a diagnostic criterion, poliosis erbium-doped:YAG laser aids in deepithelialization rarely has been reported as one of the earliest of the recipient site, allowing for treatment of large associated findings of tuberous sclerosis.3,10 Major piebald lesions during a single operation.16 Despite cutaneous features of this disease include facial these advances, additional studies are needed to angiofibromas, hypomelanotic macules, shagreen improve quality of life in those affected. patches (connective tissue nevi), periungual fibro- mas, molluscum pendulum, and café au lait macules. REFERENCES Vitiligo also may be considered in the differential 1. Janjua SA, Khachemoune A, Guldbakke KK. 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This condition initially presents with neurologic and 5. López V, Jordá E. Piebaldism in a 2-year-old girl. Dermatol ocular manifestations including headache, muscle Online J. 2011;17:13.copy weakness, tinnitus, uveitis, and choroiditis prior to 6. Ghoshal B, Sarkar N, Bhattacharjee M, et al. dermatologic manifestations.11 Glycogen storage disease 1a with piebaldism. Indian Alezzandrini syndrome, a rare and closely related Pediatr. 2012;49:235-236. disorder, is distinctly characterized by whitening of 7. not Salvatore S, Carnevale C, Infussi R, et al. Waardenburg scalp hair, eyebrows, and eyelashes, along with uni- syndrome: a review of literature and case reports. Clin Ter. lateral depigmentation of facial skin. This presenta- 2012;163:e85-e94. tion is associated with ipsilateral