2 citations
,
June 2021 in “PubMed” Chronic scalp lesions with crusts and pus indicate Erosive Pustular Dermatosis, which is confirmed by biopsy and effectively treated with strong topical steroids.
3 citations
,
May 2023 in “Pediatric Dermatology” A 9-year-old boy had a rare scalp condition usually seen in young men.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
17 citations
,
March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
November 2023 in “International Journal of Trichology” Alopecia areata may be linked to kidney issues, but more research is needed.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
2 citations
,
July 2022 in “Pediatric dermatology” A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
October 2025 in “Journal of the Endocrine Society” Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
2 citations
,
November 2023 in “Skin Research and Technology” RCM and dermoscopy help identify different types of hair loss in children.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
11 citations
,
December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
January 2016 in “ACG Case Reports Journal” A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
124 citations
,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
4 citations
,
August 2017 in “Journal of cutaneous pathology” An 8-year-old girl had a rare, benign skin tumor on her forehead.
2 citations
,
February 2013 in “Journal of the Saudi Society for Dermatology & Dermatologic Surgery” New hair spray caused a hair shaft disorder.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Rodent spiny hair traits are due to genetic factors other than the Edar gene.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
372 citations
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December 2004 in “Nature Genetics” 4 citations
,
June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.