1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
March 2026 in “Journal of Investigative Dermatology” 264 citations
,
October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
June 2025 in “Histopathology” Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
November 2024 in “Journal of Investigative Dermatology” Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
14 citations
,
October 2015 in “PLoS ONE” Keratin 14 is uniquely found in a specific group of placental cells.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
1 citations
,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
February 2024 in “Journal of medical science and clinical research” Radiotherapy effectively treated a large scalp tumor in an elderly woman, avoiding surgery.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
September 2025 in “Cureus” Plica neuropathica can occur with diffuse alopecia and should be considered in diagnosis.
August 2021 in “Indian dermatology online journal” A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
January 2021 in “Scholars journal of medical case reports” A woman with PCOS successfully overcame secondary infertility and became pregnant with triplets after treatment.
21 citations
,
October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
A machine-learning test using hair can help detect autism early in infants.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
62 citations
,
March 2008 in “American Journal of Human Genetics” Hair loss gene found on chromosome 3q26.
May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
1 citations
,
November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
January 2022 in “Clinical Cases in Dermatology” A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.