3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
10 citations
,
April 2013 in “Veterinary dermatology” A new skin disease in four Labrador retrievers responded well to immunosuppressive treatment.
August 2024 in “Clinical Cosmetic and Investigational Dermatology” Ixekizumab effectively treated severe psoriasis and hair loss in a patient.
January 2022 in “Clinical Cases in Dermatology” A man has a common skin condition called seborrheic dermatitis, treated with special shampoos and sometimes medication.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
5 citations
,
March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
9 citations
,
December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
February 2026 in “Pediatric Dermatology”
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
1 citations
,
January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
August 1969 in “Archives of Dermatology” Regenerated skin after calciphylaxis resembles scar tissue with fewer hairs.
July 2025 in “Journal of Investigative Dermatology”
1 citations
,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
1 citations
,
January 1999 in “Dermatology”
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
3 citations
,
May 2020 in “JAAD Case Reports” Two patients with psoriasis grew extra hair after using certain psoriasis medications.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
23 citations
,
February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
1 citations
,
December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
1 citations
,
October 2018 in “Madridge journal of dermatology & research” A young child with alopecia areata and psoriasis improved with treatment, suggesting a link between the two conditions.
10 citations
,
January 2018 in “International journal of trichology” Eruptive vellus hair cysts are rare and often misdiagnosed, requiring biopsy for accurate diagnosis.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.