3 citations
,
September 1998 in “International Journal of Dermatology” Acitretin effectively improved the woman's skin condition.
25 citations
,
April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
221 citations
,
June 1999 in “In Vitro Cellular & Developmental Biology - Animal”
September 2022 in “JAMC. Journal of Ayub Medical College, Abbotabad, Pakistan/Journal of Ayub Medical College” A boy with a rare skin condition improved quickly after starting zinc supplements.
55 citations
,
May 2007 in “Australasian journal of dermatology” Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
May 2020 in “International Journal of Dermatology and Venereology” Calcified epidermal cysts are rare, hard skin nodules that are best treated with surgical removal.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
2 citations
,
July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
23 citations
,
February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
1 citations
,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
November 2025 in “Journal of Investigative Dermatology” Skin-associated cartilage cells can influence hair growth by altering specific signaling pathways.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
73 citations
,
January 2004 in “Journal of the American Academy of Dermatology” Immunocompromised patients can develop skin and hair issues due to a virus.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
17 citations
,
January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
11 citations
,
June 1994 in “Journal of Investigative Dermatology” June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
1 citations
,
January 2022 in “Clinical Cases in Dermatology” A rare scalp condition was successfully treated with specific medications after 9 months.