A case of hypermelanosis in a phylloid pattern

Hwang, Seon-Wook; Cho, Kyung-Jong; Kang, Ju-Hyun; Seo, Jong-Keun; Lee, Dong Hoon; Kim, Jung-Wook; Park, Sung Wook; Sung, Ho-Suk

doi:10.1016/j.jaad.2008.09.017

Cited by 11 publications

(8 citation statements)

References 7 publications

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“…Mosaicism of 5p trisomy was seen in a patient with suspected phylloid hypermelanosis from our department (1); however, she was later re-classified clinically as a type 2 mosaic pattem (chequerboard). Two patients did not have cytogenetic investigations performed (2,4). Based on these data it is still unclear whether phylloid hypermelanosis is a rather uniform neurocutaneous phenotype or is more clinically and genetically diverse than its hypomelanotic counterpart (16).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2012

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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...

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Section: Discussionmentioning

confidence: 99%

“…Phylloid hypermelanosis is a rare form of pigmentary mosaicism that has been reported only a few times in the literature (1)(2)(3)(4)(5)(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).…”

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

et al. 2012

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“…Happle [3] summarized the cytogenetic findings in reports of 6 cases with the phylloid pattern and showed the apparent causal relationship between phylloid hypomelanosis and mosaic trisomy 13. Hwang et al [4] reported a case of phylloid hypermelanosis but did not perform a cytogenetic analysis. We report a case of phylloid hypermelanosis and histopathologically and ultrastructurally peculiar melanocytic nevi associated with 3 aberrant chromosome 13 cell lines.…”

Section: Introductionmentioning

confidence: 99%

Phylloid Hypermelanosis and Melanocytic Nevi with Aggregated and Disfigured Melanosomes: Causal Relationship between Phylloid Pigment Distribution and Chromosome 13 Abnormalities

Oiso

Tsuruta²,

Imanishi³

et al. 2010

Dermatology

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The mosaic pattern of phylloid hypomelanosis is mostly associated with chromosome 13 abnormalities. Recently, 1 case of hypermelanosis in a phylloid pattern has been described. We describe a 29-year-old Japanese male with mental retardation, phylloid hypermelanosis and histopathologically and ultrastructurally peculiar melanocytic nevi, which were associated with 3 aberrant chromosome 13 cell lines. The karyotyping of 30 peripheral blood lymphocytes showed 46,XY,r(13)(p11.2q34) in 21 cells, 45,XY,–13 in 7 cells and 46,XY,dic r(13)(p11.2q34) in 2 cells. Immunohistochemical staining with HMB45 showed a positive reaction to basal keratinocytes in phylloid hypermelanosis. HMB45 staining reacted to the nevus cells and keratinocytes in the melanocytic nevi. Electron microscopy of a specimen excised from a melanocytic nevus showed an unusual finding of aggregated and disfigured melanosomes in the keratinocytes. This case suggests that chromosome 13 abnormalities may be related to the development of phylloid hypermelanosis and the bizarre melanosomes in the keratinocytes of melanocytic nevi.

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“…Or are the unusual melanocytic nevi as noted by Oiso et al [1] perhaps related to a particular type of phylloid hypermelanosis? It is noteworthy that the patient of Hwang et al [7] had an unusual hyperpigmented patch showing accentuated hair follicles filled with thick stubby hair, clinically reminiscent of trichostasis spinulosa. This feature has so far not been noted in other cases.…”

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confidence: 95%

“…And if so, can we perhaps distinguish different clinical shapes or patterns of phylloid hypermelanosis? For example, some patients show relatively small leaf-like macules [9] , whereas other cases are characterized by rather large patches [7,8] . Or are the unusual melanocytic nevi as noted by Oiso et al [1] perhaps related to a particular type of phylloid hypermelanosis?…”

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Phylloid Hypermelanosis: An Unusual Form of Pigmentary Mosaicism

Happle¹

2010

Dermatology

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A case of hypermelanosis in a phylloid pattern

Cited by 11 publications

References 7 publications

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

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

Phylloid Hypermelanosis and Melanocytic Nevi with Aggregated and Disfigured Melanosomes: Causal Relationship between Phylloid Pigment Distribution and Chromosome 13 Abnormalities

Phylloid Hypermelanosis: An Unusual Form of Pigmentary Mosaicism

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