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    Glossary Hereditary Hypotrichosis Simplex

    genetic condition causing progressive hair thinning and loss

    Hereditary Hypotrichosis Simplex (HHS) is a genetic condition characterized by progressive hair thinning and loss, typically beginning in childhood or adolescence. Unlike other forms of hair loss, HHS does not involve scarring or other skin abnormalities, and it primarily affects the scalp, leading to sparse or absent hair over time.

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    1. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    2. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family Journal of Cutaneous Pathology · 2010 · 7 citations
    3. Isotretinoin-induced hair growth in a case of hereditary hypotrichosis simplex of the scalp: A promising therapeutic approach JAAD Case Reports · 2024
    4. Successful treatment of hereditary hypotrichosis simplex by platelet rich plasma injection with topical minoxidil 2% Journal of Dermatological Treatment · 2023
    5. Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors Dermatologic Therapy · 2022
    6. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    7. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    8. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    9. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    10. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    11. Hair: more than just an appendage International journal of research in dermatology · 2021
    12. Editors' Picks Journal of Investigative Dermatology · 2010
    13. News in brief Expert Review of Dermatology · 2010
    14. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    15. Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation American Journal of Medical Genetics - Part A · 2010 · 11 citations
    16. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    17. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    18. Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent <i>HRURF</i> Variant Journal of Cosmetic Dermatology · 2025
    19. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    20. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    21. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    22. Congenital and Hereditary Skin Diseases 2018
    23. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    24. Polarized microscopy in genetic hair disorders: case series 2025
    25. Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations Cells · 2023
    26. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    27. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    28. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    29. Congenital hypotrichosis due to short anagen British Journal of Dermatology · 2000 · 42 citations
    30. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026