January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
2 citations
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January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
February 2016 in “Acta Medica Marisiensis” A woman with chronic hepatitis C had a rare skin condition linked to her illness.
November 2025 in “Medicina” Alopecia areata may be linked to changes in body fat but not to heart or artery issues.
September 2023 in “Russian Journal of Skin and Venereal Diseases” A rare scalp condition caused scarring hair loss in a woman, improved slightly with treatment.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
73 citations
,
January 2004 in “Journal of the American Academy of Dermatology” Immunocompromised patients can develop skin and hair issues due to a virus.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
January 2025 in “International journal of research studies in biosciences” Mitochondrial dysfunction and oxidative stress may play a role in Lichen Planopilaris.
3 citations
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August 2022 in “Cutis” Certain nail conditions can suggest thyroid problems, with different symptoms for underactive (slow, thin nails) and overactive (spoon-shaped, brittle nails) thyroid.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
3 citations
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April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
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.
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.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
9 citations
,
July 1993 in “Archives of dermatology” Pityriasis amiantacea is a scalp condition with thick, greasy scales and sometimes hair loss.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
June 2009 in “Mayo Clinic Proceedings” A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
26 citations
,
August 2014 in “Veterinary Dermatology” Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
September 2024 in “Cureus” A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
6 citations
,
November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
November 2024 in “Skin Appendage Disorders” Clinicians should consider individual factors and communicate risks and benefits when prescribing ritlecitinib for adolescent alopecia areata.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
January 2026 in “SKIN The Journal of Cutaneous Medicine” Rituximab treatment led to complete hair regrowth and improved skin in a woman with pemphigus foliaceus.