A gluten-free diet and removing the parathyroid adenoma helped a girl with coeliac disease and high calcium levels start puberty.
February 2026 in “Frontiers in Medicine” Fibrosing alopecia starts earlier in Latin American men and often looks like common male pattern baldness.
January 2006 in “DOAJ (DOAJ: Directory of Open Access Journals)” Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
April 2023 in “Journal of Investigative Dermatology” Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
151 citations
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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.
1 citations
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May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
August 2017 in “韓方眼耳鼻咽喉皮膚科學會誌 = The journal of Korean Medicine Ophthalmology & Otolaryngology & Dermatology” Early-onset male baldness is significantly linked to a higher risk of metabolic syndrome.
15 citations
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August 1991 in “American Journal of Medical Genetics” A special diet can fix hair problems in argininosuccinase deficiency.
Treatment improved symptoms in a woman with HAIR-AN syndrome.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
253 citations
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March 2006 in “The Journal of Clinical Endocrinology and Metabolism” Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
47 citations
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August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Pyoderma gangrenosum can occur in rheumatoid arthritis patients and may be mistaken for vasculitis.
13 citations
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November 2015 in “Blood Pressure” Hair loss may indicate higher heart risk and metabolic issues.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
December 2015 in “Revista Chilena de Dermatología” El Síndrome de Ovario Poliquístico causa problemas de piel como acné y es importante reconocerlo temprano para tratarlo.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
278 citations
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August 2004 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” Polycystic ovaries are defined by having 12 or more small follicles in each ovary and are found in up to 33% of women, while Polycystic Ovary Syndrome (PCOS) is the most common hormone disorder in women of reproductive age, potentially increasing risk of obesity, diabetes, and heart diseases.
11 citations
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January 2013 in “International Journal of Trichology” Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
257 citations
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July 2018 in “Obstetrics & Gynecology” PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
26 citations
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April 2007 in “Journal of clinical oncology”
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.