10 citations
,
August 2016 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Vitiligo patients often have nail problems, so checking their nails is important.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
Skin changes throughout life, from development before birth to aging effects like wrinkles, influenced by both genetics and environment.
178 citations
,
October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
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.
8 citations
,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
7 citations
,
November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
May 2024 in “Clinical, cosmetic and investigational dermatology” 5% topical minoxidil effectively treated a boy's congenital triangular alopecia without side effects.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
40 citations
,
November 2009 in “Experimental Dermatology” The mineralocorticoid receptor may play a role in skin and hair health and could be a new target for treating related disorders.
28 citations
,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
January 2011 in “Elsevier eBooks” Alopecia in animals can be hereditary, congenital, or acquired, with treatments and outcomes varying widely.
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.
52 citations
,
October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
22 citations
,
February 2008 in “Journal of Dermatological Science” EPR spectroscopy showed that spontaneous hair growth results in thicker skin and less pigmented hair than depilation-induced growth.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
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.
65 citations
,
January 2009 in “Pediatric Dermatology” The most common skin problems in Indian children are infections and eczemas.
59 citations
,
January 2005 in “Endocrine Journal” Sex steroids influence skin appendage function and neoplasm development, with changes in AR and ERalpha in certain gland neoplasms.
52 citations
,
February 2018 in “Diabetology & Metabolic Syndrome” Some skin conditions may indicate metabolic syndrome, which could help with early detection and management of related health issues.
35 citations
,
January 2006 in “Journal of Dermatological Treatment” Zinc can help with some skin problems, but its effectiveness varies depending on the condition.
26 citations
,
May 2014 in “BioEssays” Using neurohormones to control keratin can lead to new skin disease treatments.
26 citations
,
June 2012 in “The Journal of Obstetrics and Gynecology of India” Most skin changes during pregnancy are harmless and temporary, but some can risk the fetus and need careful treatment.
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.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
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.