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.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
20 citations
,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
16 citations
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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.
16 citations
,
December 2006 in “Chinese Medical Journal” Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
16 citations
,
June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
14 citations
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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
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
13 citations
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January 2011 in “International Journal of Trichology” CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
13 citations
,
July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
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.
12 citations
,
March 2013 Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.
12 citations
,
August 1988 in “Histopathology” The tumor likely shows dual neural crest differentiation.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
11 citations
,
February 1989 in “Journal of veterinary medicine. Series A” Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
10 citations
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November 2019 in “Neuroendocrinology” Measuring 17-hydroxyprogesterone in hair can help monitor androgen levels in people with congenital adrenal hyperplasia.
10 citations
,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
9 citations
,
February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.
9 citations
,
May 2016 in “Veterinary dermatology” Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
9 citations
,
April 2016 in “Clinical Endocrinology” Scalp hair 17-OHP and androstenedione levels can help monitor treatment in CAH patients.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.