XVIII Международная студенческая научная конференция Студенческий научный форум - 2026

A rare medical condition characterized by excessive hair growth in areas not hormonally dependent (fig. 1). It is a morphological anomaly, not an endocrine disorder [1].

Core Classification & Pathophysiology.

1. Congenital Forms (Genetic):

• Hypertrichosis Lanuginosa Congenita: Autosomal dominant. Failure of fetal lanugo (fine, unpigmented) to shed after birth. Caused by mutations in regulatory regions on 8q23.1, affecting the TRPS1 gene.

• Generalized Hypertrichosis: Terminal/vellus hair. Linked to chromosome 17q24.2-q24.3. Involves dysregulation of SOX9 and altered expression of nearby long non-coding RNAs, affecting hair follicle development.

• Localized Hypertrichosis: Often appears as a nevoid patch (e.g., hairy elbow syndrome). Can be an isolated finding or a cutaneous marker of underlying spinal dysraphism.

2. Acquired Forms:

• Hypertrichosis Lanuginosa Acquisita: Sudden appearance of widespread lanugo, a major paraneoplastic sign (often associated with lung, colorectal, or breast cancers). Serves as a marker for tumour recurrence [2].

• Drug-Induced: Common cause. Key medications include minoxidil, cyclosporine, phenytoin, prostaglandin analogues (latanoprost), and EGFR inhibitors. This is the rarest type of cause for the werewolf syndrome, and its critical to access the right med.

Advanced Etiology & Mechanism. Follicular "Switch" Dysregulation: Involves altered Wnt/β-catenin, Sonic Hedgehog, and FGF signalling pathways, leading to prolonged anagen (growth) phase or conversion of vellus follicles to terminal ones.

Epigenetic & Evolutionary Links. The human "hairless" phenotype is evolutionarily recent. Mutations may reactivate conserved genetic programs for hair growth. The 17q24.2 locus contains evolutionarily conserved enhancers critical for natural human hair pattern variation

Key Associated Syndromes. Hypertrichosis is a prominent feature of several complex syndromes:

• Ambras Syndrome: The most studied congenital generalized form, often linked to 8q anomalies.

• Cantu Syndrome: Caused by ABCC9 or KCNJ8 mutations. Features hypertrichosis, cardiomegaly, and skeletal abnormalities.

• PORCN-Related Disorders (Goltz Syndrome): Focal dermal hypoplasia with patchy hypertrichosis.

• Hurler Syndrome (Mucopolysaccharidosis): Coarse facial hair due to metabolic dysfunction.

Management

First-Line: Physical removal (shaving, trimming) and cosmetic ablation (laser hair removal, electrolysis) [1].

Pharmacological: Eflornithine HCl cream (ornithine decarboxylase inhibitor) to slow growth. Treatment of underlying cause is paramount in acquired forms.

Psychological Support: Essential due to significant social stigma and impact on quality of life.

In essence: Hypertrichosis is a heterogenous condition stemming from genetic, paraneoplastic, or pharmacological disruption of follicular development cycles, requiring a precise etiological. Shaving: a twice-daily battle against your own genetics. You don't need a winter coat; you are the winter coat. Sometimes it’s best to accept as you are, it’s not disability its unique form of mother nature.

References:

1. Hypertrichosis. Website Symptoma. URL: https://www.symptoma.com/en/info/hypertrichosis (data accessed: 12.12.2025);

2. Slee PH, van der Waal RI, Schagen van Leeuwen JH, Tupker RA, Timmer R, Seldenrijk CA, van Steensel MA. Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked? Br J Dermatol. 2007 Dec;157(6):1087-92. doi: 10.1111/j.1365-2133.2007.08253.x. Epub 2007 Oct 17. PMID: 17941940.

*The review article has been written under the guidance of Associate Professor ofbiology department of Orenburg State Medical University, Cand. Sc. (Biology), G.F. Kolchugina

*Данная обзорная статья написана под руководством доцента кафедры биологии Оренбургского государственного медицинского университета, кандидата биологических наук Г.Ф. Кольчугиной.