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.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
42 citations
,
September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
1 citations
,
November 2025 in “International Journal of Clinical Pharmacy” Cladribine has known risks and potential new safety concerns, requiring careful monitoring.
September 2022 in “Anais Brasileiros de Dermatologia” Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
March 2026 in “Dermatology Online Journal” Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
October 2024 in “The American Journal of Gastroenterology” Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
2 citations
,
December 2024 in “International Journal of Rheumatic Diseases” Ocrelizumab may cause total body hair loss in some patients.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
October 2014 in “Aktuelle Dermatologie” A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
5 citations
,
February 2013 in “PubMed” An 11-year-old girl's hair loss was caused by a Cladosporium fungal infection, which was cured with itraconazole treatment.
10 citations
,
May 2017 in “Clinical and experimental dermatology” 1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
3 citations
,
April 2002 in “The Lancet” Painful hair loss in an elderly woman was caused by giant cell arteritis, not just aging.
3 citations
,
March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
December 2022 in “Biological and Clinical Sciences Research Journal” Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
1 citations
,
September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
6 citations
,
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplements effectively treat acrodermatitis enteropathica.
November 2020 in “Acta Medica Bulgarica/Acta medica Bulgarica” The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.