75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
March 2023 in “Journal of Drugs in Dermatology” Hormonal therapies, especially antiandrogens, can help manage Hidradenitis Suppurativa.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
November 2025 in “Frontiers in Oral Health” Accurate diagnosis and management of rare genian fistulas require combined clinical, radiologic, and histopathologic evaluations.
4 citations
,
June 2002 in “Clinical and experimental dermatology” Effective treatment for hidradenitis suppurativa varies, with antibiotics commonly used and surgery as an option, but no single method is universally successful.
December 1987 in “Pediatric Dermatology” Hair bands are a new symptom of facio-genito-popliteal syndrome.
January 2012 in “Case reports in pediatrics” A 16-year-old boy's arm hair grew more after wearing a splint, but it returned to normal in 8 months.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
21 citations
,
April 2010 in “Pediatrics in Review” Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
1 citations
,
November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
April 2005 in “The Journal of Urology”
January 2023 in “Archives of Disease in Childhood Education & Practice” Hirsutism in teens is often due to polycystic ovarian syndrome and needs careful assessment and support.
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.
March 2019 in “Nasza Dermatologia Online” A man had both alopecia areata and lichen planus, which is uncommon.
6 citations
,
April 1993 in “Journal of the Royal Society of Medicine” Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
34 citations
,
December 2021 in “Journal of Clinical Medicine” Men with BPH should discuss potential sexual side effects with doctors before treatment, as some treatments can affect ejaculation.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
7 citations
,
December 2024 in “Journal of the American Academy of Dermatology” Genetics, hormones, and microbiome changes contribute to hidradenitis suppurativa.
February 2025 in “Pediatric Dermatology” June 2025 in “Pediatric Annals” Adolescents face skin and hair issues due to hormonal changes, needing informed care beyond social media advice.
1 citations
,
October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
December 2018 in “Dermatologic Surgery” 2 citations
,
May 2018 in “Dermatologic Surgery”