September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
2 citations
,
February 2000 in “International Journal of Dermatology” Hepatitis C and alcohol abuse may lead to porphyria cutanea tarda.
6 citations
,
July 2017 in “Clinical and Experimental Dermatology” Four new cases confirmed the unique features of follicular porokeratosis.
6 citations
,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
170 citations
,
May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
45 citations
,
January 2018 in “International Journal of Dermatology” Nail problems are common in people with alopecia areata, often leading to cosmetic and functional issues, but more research is needed for treatment guidelines.
September 2023 in “Journal of the American Academy of Dermatology” A rare benign scalp tumor in an infant requires surgical removal.
April 2025 in “Pediatric Dermatology” Scalp biopsies are essential for diagnosing congenital alopecia areata.
13 citations
,
June 2011 in “PubMed” The patient improved significantly after treatment, with only one small scar remaining.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
6 citations
,
July 2011 in “Journal of Plastic Reconstructive and Aesthetic Surgery” Eyebrow reconstruction using hair follicle grafts was successful in a man with a benign hereditary disorder affecting his eyebrows.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
3 citations
,
August 2010 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
February 2013 in “Journal of the American Academy of Dermatology”
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
4 citations
,
September 1992 in “Journal of Small Animal Practice” A French bulldog had sparse hair due to a condition similar to that seen in Chinese crested dogs.
13 citations
,
November 2009 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.
6 citations
,
January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
June 2025 in “British Journal of Dermatology” Lichen planopilaris may have a genetic link.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.