Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
13 citations
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June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
25 citations
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January 2004 in “The International Journal of Developmental Biology” Research on skin disorders in humans and mice has improved understanding of hair and skin development.
July 2022 in “Dermatology Reports” A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
10 citations
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June 1999 in “Veterinary Dermatology” Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
128 citations
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March 1996 in “Journal of Investigative Dermatology”
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
20 citations
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March 1985 in “Journal of The American Academy of Dermatology” Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
2 citations
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October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
5 citations
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May 2020 in “Wiley Interdisciplinary Reviews Developmental Biology” Bone growth is controlled by both internal and external signals, involving stem cells and tissue interactions.
54 citations
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November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
September 2016 in “European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology” Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
63 citations
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April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
April 2011 in “www.virtualization.info” Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
14 citations
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January 1995 in “Archives of Physical Medicine and Rehabilitation” A patient developed excess hair and skin issues on the same side after wearing a cast.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.