260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
74 citations,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
53 citations,
August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” 42 citations,
September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
39 citations,
April 2009 in “Journal of Plastic Reconstructive & Aesthetic Surgery” The surgery for severe congenital ptosis in children is safe and effective, with good long-term results.
36 citations,
March 1987 in “Pediatrics” Minoxidil use during pregnancy can cause excessive hair growth and multiple birth defects in the baby.
34 citations,
December 1995 in “Pediatric Dermatology” Congenital Triangular Alopecia is a rare, non-scarring hair loss that can be surgically treated in females for cosmetic reasons.
32 citations,
November 2006 in “Veterinary dermatology” Congenital alopecia in domestic animals is rare and involves abnormal hair follicle development, needing better understanding and classification.
32 citations,
January 2005 in “Journal of The American Academy of Dermatology” Some babies are born with alopecia areata, and a treatment with clobetasol propionate can regrow hair in half of the cases.
32 citations,
April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
28 citations,
December 2007 in “Archives of ophthalmology” Lash ptosis is more common and severe in people with congenital eyelid droop than in those with acquired eyelid droop or without eyelid droop.
26 citations,
March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
24 citations,
May 2012 in “International Journal of Dermatology” The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.
20 citations,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
16 citations,
July 2017 in “Journal of American Association for Pediatric Ophthalmology and Strabismus” The modified Crawford technique resulted in less lagophthalmos and better cosmetic outcomes for patients with lateral droop.
16 citations,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
14 citations,
January 2013 in “Indian Journal of Endocrinology and Metabolism” Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
14 citations,
January 2010 in “Dermatology” Some people with congenital triangular alopecia have a central tuft of hair in the bald patch, but the cause is unknown.
14 citations,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
13 citations,
January 2011 in “International Journal of Trichology” CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
12 citations,
February 2017 in “Graefe s Archive for Clinical and Experimental Ophthalmology” Gore-Tex is effective for severe congenital ptosis, with the open approach better for no lid crease and the closed approach better for a preserved crease.
Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.
11 citations,
August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.