1 citations
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September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
30 citations
,
October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
57 citations
,
November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
July 2023 in “Indian Journal of Endocrinology and Metabolism” An 11-year-old girl's hair regrew after treating her thyroid condition with carbimazole.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
February 2024 in “Internet Journal of Rheumatology and Clinical Immunology” A rare case of lupus linked to thymoma shows complex diagnosis and management challenges.
88 citations
,
August 2019 in “Frontiers in immunology” Tyrosine kinases are important in skin autoimmune diseases and could be targets for new treatments.
2 citations
,
August 2022 in “Federal Practitioner” A severe medication reaction required long treatment and led to hair loss and thyroid issues.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
1 citations
,
January 2014 SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
12 citations
,
January 2013 in “Indian Journal of Dermatology” Monilethrix is a rare genetic hair disorder that's hard to treat.
March 2025 in “Indian Journal of Dermatology Venereology and Leprology” Tofacitinib is effective for treating alopecia totalis and universalis, with some patients experiencing significant hair regrowth.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
17 citations
,
June 1994 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Tenascin is present in normal skin and certain skin tumors but not in sebaceous glands or their tumors.
February 2021 in “Pakistan Armed Forces Medical Journal” A rare skin condition usually found near the eyes was found on a farmer's scalp.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
16 citations
,
June 2009 in “Dermatologic Surgery” A 17-year-old boy with Temporal Triangular Alopecia successfully grew new hair after a hair restoration surgery using follicular unit transplantation.
February 2024 in “Curēus” Prompt diagnosis and treatment of hair tourniquet syndrome involving the uvula are crucial to prevent severe complications.
19 citations
,
June 2020 in “BMC Cancer” Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
9 citations
,
October 2019 in “Dermatologic Therapy” Oral tofacitinib has a moderate success rate and is generally safe for treating hair loss in some patients.
February 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.