TLDR A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
Ichthyosis hystrix, a rare skin disorder characterized by massive hyperkeratosis resembling spiny scales, was described in a 3-day-old male with extensive verrucous hyperpigmented lesions following Blaschko's lines, resulting in alopecia in affected areas. The patient exhibited no systemic abnormalities, and routine laboratory tests were normal. The condition, first noted in the 18th century, involves mutations in the keratin-1 gene and presents with varied clinical expressions. Treatment is primarily symptomatic, with topical retinoids and etretinate showing some benefit.
130 citations
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April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
130 citations
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April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
79 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
