Pigmented hairy epidermal nevus syndrome
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| Pigmented hairy epidermal nevus syndrome | |
|---|---|
| Other names | Becker's naevus syndrome |
| Specialty | Dermatology |
Pigmented hairy epidermal nevus syndrome, also known as Becker's naevus syndrome,[1] is a cutaneous condition characterized by a Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis.[2]: 635 [3]: 776
Pigmented hairy epidermal nevus syndrome is defined by the presence of a hypoplastic defect of the muscle, skin, or skeleton, or by ipsilateral breast hypoplasia associated with a Becker's nevus.[4]
Anomalies of the skin such as granuloma annulare, basal cell carcinoma, melanoma, lymphangioma, osteoma cutis, and hypohidrosis have been observed to co-localize with Becker's nevus. There have also been reports of quadriparesis, congenital adrenal hyperplasia, pectus carinatum, spina bifida, and an accessory scrotum.[5]
There have been several reports of ipsilateral developmental anomalies, including lipoatrophy,[6] segmental odontomaxillary dysplasia,[7] limb reduction,[8] aplasia of the pectoralis major muscle,[9] breast hypoplasia,[10] and supernumerary nipples.[11]
Diagnosis
The majority of the diagnosis is clinical, with a well-defined area of hyperpigmentation and hypoplasia of the ipsilateral breast, areola and/or nipple, limb, muscle, and adipose tissue. Histology results showing high androgen receptor levels in the hypoplastic muscles similar to those expressed in the genitalia further corroborate the diagnosis.[4]