Nouh Ahmed H, Elgendy Fatma M, Gobran Fatma A, Zhuravlova Maryna S
Al-Azhar University, Faculty of Medicine, Department of Dermatology, Venereology and Andrology, Cairo, Egypt.
Ain Shams university, Faculty of medicine, Department of Pathology, Cairo, Egypt.
Clin Cosmet Investig Dermatol. 2025 Jan 22;18:223-233. doi: 10.2147/CCID.S487399. eCollection 2025.
Marie-Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by a specific pattern of hair loss. Initially described in 1925 by Marie-Unna in a German family spanning over seven generations, MUHH represents a previously unidentified form of congenital hypotrichosis. It typically presents as sparse hair at birth with a coarse texture, followed by regrowth during childhood then, finally, gradual hair loss at puberty, resembling pattern of androgenetic alopecia.
The study describes two cases from different unrelated families presenting with recalcitrant alopecia resembling female pattern hair loss, with dermoscopic findings consistent with pili torti and yellow dots. Genetic testing confirmed a heterozygous pathogenic variant in the HRURF gene, associated with autosomal dominant Marie Unna Hereditary Hypotrichosis. Up to our knowledge it is first case series reported from Egypt.
While recent literature on MUHH has primarily focused on identifying genetic abnormalities, there are other important questions that warrant consideration. These include histopathological studies, dermoscopic descriptions, and correlating types of genetic mutations with clinical presentations. These data might offer a deeper understanding of MUHH pathophysiology ending in efficacious treatment options.
玛丽 - 乌纳遗传性少毛症（MUHH）是一种常染色体显性疾病，其特征为特定的脱发模式。1925年，玛丽 - 乌纳首次在一个跨越七代的德国家庭中描述了该病，MUHH代表了一种先前未被识别的先天性少毛症形式。它通常表现为出生时头发稀疏且质地粗糙，随后在儿童期重新生长，最终在青春期逐渐脱发，类似雄激素性脱发的模式。
该研究描述了来自两个不同无亲缘关系家庭的病例，这些病例表现为顽固的脱发，类似女性型脱发，皮肤镜检查结果与扭曲发和黄点一致。基因检测证实HRURF基因存在杂合致病性变异，与常染色体显性玛丽·乌纳遗传性少毛症相关。据我们所知，这是埃及报道的首个病例系列。
虽然近期关于MUHH的文献主要集中在识别基因异常，但还有其他重要问题值得考虑。这些问题包括组织病理学研究、皮肤镜描述以及将基因突变类型与临床表现相关联。这些数据可能有助于更深入地了解MUHH的病理生理学，从而产生有效的治疗方案。
