February 2024 in “Journal of dermatology research reviews & reports” A 50-year-old woman with breast cancer developed an autoimmune skin disorder, highlighting the need for thorough checks and team-based treatment.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
13 citations
,
February 2025 in “Journal of the European Academy of Dermatology and Venereology” Ritlecitinib shows promise for treating alopecia areata, especially with early and extended treatment.
January 2011 in “Linchuang pifuke zazhi”
11 citations
,
November 2005 in “The Journal of Dermatology” A man's crushed thumb caused unusual horizontal nail ridges on all fingers of one hand.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
6 citations
,
May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
97 citations
,
January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
41 citations
,
April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
October 2014 in “Aktuelle Dermatologie” A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
September 2023 in “SKIN The Journal of Cutaneous Medicine” Talquetamab may cause hair loss and skin issues.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
6 citations
,
January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
1 citations
,
November 2023 in “SKIN The Journal of Cutaneous Medicine”
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.
11 citations
,
May 2016 in “Journal of Cutaneous Medicine and Surgery” A combined Dermatology and Rheumatology Clinic showed that skin issues often weren't linked to rheumatic diseases, highlighting the benefits of a team approach.
14 citations
,
July 2009 in “European Journal of Gastroenterology & Hepatology” Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
August 1978 in “Archives of Dermatology” A 31-year-old man has a chronic skin condition with red plaques, hair loss, and swollen lymph nodes.
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.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.