Pigmented hairy epidermal nevus syndrome

Signs and symptoms

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.

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.

There have been several reports of ipsilateral developmental anomalies, including lipoatrophy, segmental odontomaxillary dysplasia, limb reduction, aplasia of the pectoralis major muscle, breast hypoplasia, and supernumerary nipples.

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.

References

References

1. James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN. 0-7216-2921-0.
2. Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN. 0-07-138076-0.
3. (2021-08-09). "Becker's nevus syndrome: a case report". Springer Science and Business Media LLC.
4. (2014). "Becker′s nevus syndrome". Medknow.
5. (1993). "Becker's naevus with localized lipoatrophy and ipsilateral breast hypoplasia". The British Journal of Dermatology.
6. (1999). "Simultaneous occurrence of segmental odontomaxillary dysplasia and decker's nevus". Elsevier BV.
7. (1965). "Pigmented hairy epidermal nevus (Becker)". Archives of Dermatology.
8. (1985). "Becker's Melanosis and Hypoplasia of the Breast and Pectoralis Major Muscle". Wiley.
9. (2003). "Becker's Nevus with Ipsilateral Breast Hypoplasia: Improvement with Spironolactone". Wiley.
10. Urbani, C. E.. (2001). "Paradominant inheritance, supernumerary nipples and Becker's nevus: once again!". European Journal of Dermatology.