2 citations
,
May 2014 in “PubMed” A 10-year-old boy was diagnosed with a rare scalp condition causing hair loss and treated with a topical cream.
April 2024 in “Indian Journal of Paediatric Dermatology” Congenital triangular alopecia and vitiligo can occur together, but treatment for one may not affect the other.
36 citations
,
January 1994 in “Cell and Tissue Research” 1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
1 citations
,
October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
35 citations
,
September 2006 in “American Journal Of Pathology” Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
Hair loss due to a repaired brain bulge was successfully treated using a tissue expansion technique.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
3 citations
,
August 1988 in “PubMed” 2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
24 citations
,
November 2003 in “Australasian Journal of Dermatology” A rare skin cancer caused hair loss and spread, needing multiple treatments.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
December 2025 in “Cureus” Zinc supplements effectively treat inherited zinc deficiency in infants.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
1 citations
,
March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
January 2026 in “Indian Journal of Paediatric Dermatology” A 14-year-old boy has a skin condition called nevus comedonicus, treated with tretinoin cream.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
January 2025 in “eScholarship@McGill (McGill)” Jag2 is essential for proper skin cell differentiation and organization.
7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
1 citations
,
February 2014 in “Hair therapy & transplantation” A baby boy had two types of temporary hair loss at birth, which might be two forms of newborn hair loss combined.
1 citations
,
January 2022 in “Clinical Cases in Dermatology” A rare scalp condition was successfully treated with specific medications after 9 months.
5 citations
,
December 1964 in “Australasian journal of dermatology” Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
1 citations
,
January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.