Can postzygotic mutation in beta-actin be a common genetic etiology for Poland’s syndrome and Becker’s nevus syndrome?

Chandran, Suresh; Quek, Bin Huey; Hashim, Eman Awadh Abduladheem

doi:10.21037/tp-21-436

Cited by 1 publication

(1 citation statement)

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“…It is also important to note that BN is the only epidermal nevus that does not adhere to Blaschko lines [ 6 ]. Certain Actin-Beta (ACTB) gene mutations in BN may enhance Hedgehog signaling in the smooth muscle of the arrector pili, a tissue derived from the embryonic mesoderm, impairing the formation of hair follicles in a noncell autonomous manner [ 7 ]. Given that BN is more likely to result in acne and hypertrichosis, both of which are more common in men, the notion of hyperresponsive hormones (i.e., the sensitivity of androgens) is put out in this cutaneous hamartoma [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Becker’s Nevus in a Male: A Case Report

Bhardwaj,

Joshi,

Chakole

et al. 2023

Cureus

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Nevus is a group of melanocytes that grow together to form a benign growth on the skin. It is often a black lesion that may protrude from the skin. Becker's nevus is a hyperpigmented lesion that presents congenitally or is acquired. The pigmentation and unusually high hair growth might grow darker with time. Becker's nevus, which can interchangeably be called Becker's melanosis, is a rare disease usually presented by men. The following case is of a 21-year-old male who presented with a hyperpigmented lesion on his right arm. The lesion started at age 16 and increased in size gradually; it involved the flexor surface of the right elbow joint and showed hypertrichosis with irregular margins. On examination, the top dermis contained melanophages, and the basal layer was hyperpigmented. Based on clinical appearance and examination, Becker's nevus was diagnosed.

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Section: Introductionmentioning

confidence: 99%