Phylloid Hypermelanosis in a Child with Psychomotor Delay, Cicatricial Alopecia, Hearing Loss and Polythelia

Abstract

Phylloid hypermelanosis is a rare form of pigmentary mosaicism that has been reported only a few times in the literature (1-6). While phylloid hypomelanosis is linked to trisomy 13, the cause of phylloid hypermelanosis is more obscure (5,(7)(8)(9)(10)(11)(12)(13). We describe here a case of phylloid hypermelanosis associated with mild developmental delay, cicatricial alopecia, hearing loss and polythelia. CASE REPORTThe boy was the first child of healthy unrelated Iraqi parents. He was bom at term after an uneventfiil pregnancy apart from transient elevated liver parameters in his mother. He was small for gestational age, with a birth weight of 2,500 g and birth length of 48 cm. Immediately after birth patchy and striped hyperpigmentations were noted on his skin. He had hypotonia and showed delayed developmental milestones. His language skills were also delayed, e.g. he could only babble at the age of 3 years. Brain magnetic resonance imaging (MRI) was normal, while an automatic auditory brainstem response (AABR) showed a mild conductive slightly asymmetrical hearing impairment with an auditory threshold of 40 dB and 35 dB on the right and left sides, respectively. Dermatological examination revealed widespread leaf-like, oblong and pear-shaped hyperpigmented patches on his trunk ( Fig. la) and broad hyperpigmented linear lesions on his limbs. No midline separation was noted on the trunk. A swirl of pigmented vellus hairs was seen centrally on his back between his shoulder blades. Slightly asymmetrical facial features were noted, with right-sided hypoplasia of his facial skeleton and an extra tooth on the left side Fig. 1. Clinical features in a 3-year-old boy with (a) phylloid hyperpigmentation on the trunk and (b) polythelia. The circle marks the biopsy site.of his upper jaw (+02). He had a low frontal hairline and darkly pigmented and dense hair, apart from whorled cicatricial alopecia centrally on his scalp (Fig. 2). Skin biopsies from the scalp showed pseudopelade of Brocq. He had polythelia, with 3 nipples on his right side and 2 nipples on his left side (Fig. I b).A skin biopsy was taken from a hyperpigmented area on his back, and chromosomal analysis of 12 metaphases of cultured skin fibroblasts showed a normal male karyotype, as did investigation of blood lymphocytes. Two new skin biopsies were subsequently taken from abnormal hyperpigmented skin and normal pigmented skin on his thigh. This time fibroblasts, as well as keratinocytes, were cultured and showed a normal male karyotype 46,XY. Fluorescence in situ hybridization (FISH)-investigation with a 13ql4 probe (13ql4 Vysis) in 200 metaphases of fibroblasts cultured from normal as well as affected skin showed two signals in all investigated cells, making mosaicism of trisomy 13 very unlikely. Oligo-Array-comparative genomic hybridization (CGH) (OGT Syndrome Plus 2x105K) of cultured fibroblasts as well as cultured keratinocytes was performed twice; once with a Promega female control, and once with normal skin as control for affected skin. The results wer...

Phylloid Hypermelanosis: A Cutaneous Marker of Several Different Disorders?

“…Future research may show whether a consistent clinicogenetic entity can be found among the cases of phylloid hypermelanosis. For example, the patients described by Dockx et al and Bygum et al have some vague similarities to the present case, such as unusual facial appearance , auricular deformities , and mental deficiency , but it seems too early to postulate the existence of a distinct phenotype to be separated from the other cases of phylloid hypermelanosis. On the other hand, a nosologic relationship with phylloid hypomelanosis, reflecting mosaic trisomy 13q, is unlikely, although additional chromosome 13 material was found in one case of phylloid hypermelanosis .…”

“…In a 7‐year‐old boy described by Bygum et al , phylloid hypermelanosis was associated with patchy cicatricial alopecia, polythelia, mental deficiency, hypotonia, and bilateral conductive hearing loss. Right‐sided facial hypoplasia, an extra incisor tooth on the left side of the upper jaw, and a low frontal hairline were likewise noted.…”