6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
4 citations
,
July 2015 in “Case Reports in Dermatology” A woman with unexplained hair loss was found to have harmless skin tumors and a scarring hair loss condition, but the tumors didn't cause the hair loss.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
2 citations
,
October 2014 in “Orbit” Lacrimal gland inflammation and alopecia areata can happen together due to autoimmune issues.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
2 citations
,
October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
6 citations
,
May 2015 in “Clinics in Dermatology” Acne and other skin conditions can indicate internal diseases like Polycystic Ovary Syndrome (PCOS), and early treatment can prevent long-term issues.
April 2012 in “Informa Healthcare eBooks” Syphilitic alopecia is a rare hair loss condition in secondary syphilis that looks similar to another condition but can be diagnosed with specific tests and responds to antibiotics.
1 citations
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September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
6 citations
,
February 2019 in “JAAD case reports” Acitretin helped improve hand mobility and skin condition in a patient.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
12 citations
,
October 2016 in “Anais Brasileiros de Dermatologia” Frontal Fibrosing Alopecia may be linked to autoimmune diseases like Sjögren's syndrome.
18 citations
,
March 2004 in “The Journal of Urology” Hypospadiac rats showed abnormal genital development, useful for studying human hypospadias.
9 citations
,
October 2014 in “Experimental and Clinical Endocrinology & Diabetes” Knuckle Acanthosis Nigricans is common in Latin American youth and may indicate early insulin resistance, especially in those with normal weight.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
18 citations
,
October 2016 in “Clinics in Dermatology” The document talks about hard-to-treat and rare acne types, their connection with other health issues, the importance of correct diagnosis, and the challenges in managing them.
25 citations
,
April 2007 in “Journal of The American Academy of Dermatology” The document suggests "anisotrichosis" as a new term for hair thickness variation in common baldness.
December 1972 in “Archives of Dermatology” The girl has an inflammatory type of scarring hair loss.
May 2014 in “La Revue de médecine interne” Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
14 citations
,
October 1974 in “Archives of Dermatology” Females with alopecia areata have more fingerprint arches.
2 citations
,
January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
October 2012 in “Indian Journal of Dermatology, Venereology and Leprology” 4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
22 citations
,
May 2005 in “Journal of the European Academy of Dermatology and Venereology” People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
November 2022 in “JAAD case reports” The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
30 citations
,
September 2017 in “Clinics in Dermatology” Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.