June 2024 in “Frontiers in immunology” Sequential therapy with dupilumab and baricitinib improved hair regrowth and atopic dermatitis in a child without adverse reactions.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
2 citations
,
June 2017 in “Journal of The American Academy of Dermatology” The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
September 2025 in “Acta Dermato Venereologica” Baricitinib can help improve hair loss and skin color issues in people with Down syndrome.
12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
3 citations
,
August 1988 in “PubMed” 37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
7 citations
,
May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
1 citations
,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” ZNF750 and MPZL3 are important in causing seborrheic dermatitis.
4 citations
,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
19 citations
,
March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
15 citations
,
November 2016 in “Journal of The American Academy of Dermatology” Exclamation mark hairs suggest early scalp disease, while white dots indicate it's chronic.
1 citations
,
September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.
1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
1 citations
,
September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
2 citations
,
November 2019 in “Journal für Klinische Endokrinologie und Stoffwechsel” PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.
January 2015 in “Nasza Dermatologia Online” Monilethrix causes fragile, patchy hair loss.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
1 citations
,
August 2025 in “European journal of medical research” Subclinical hypothyroidism in women with PCOS affects thyroid and hormone interactions but not ovary structure.
65 citations
,
December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.