January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
18 citations
,
November 1994 in “Histochemical Journal” The enzyme PST is found in developing human kidneys and helps with detoxification and development.
5 citations
,
March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
7 citations
,
July 2006 in “Journal of cutaneous pathology” A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
June 2013 in “Aesthetic Surgery Journal” The book is a detailed guide on aesthetic surgery with useful content and visuals, but lacks new techniques and a CD, rated 4 out of 5.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
84 citations
,
June 1970 in “Journal of Investigative Dermatology” 46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
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.
98 citations
,
July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
1 citations
,
April 2023 in “Clinical, cosmetic and investigational dermatology” Antigens from skin cells may cause hair loss in perinevoid alopecia.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
June 2025 in “British Journal of Dermatology” Nail abnormalities in children can indicate deeper health issues.
7 citations
,
May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
October 2024 in “Skin Research and Technology” Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.