1 citations
,
August 2019 in “Pediatric dermatology” Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
2 citations
,
January 2003 in “Dermatologic surgery” The 800-nm pulsed diode laser is a safe and effective long-term treatment for trichostasis spinulosa in dark-skinned individuals.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
150 citations
,
June 1999 in “Oncogene” 60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
21 citations
,
December 2006 in “Archives of dermatology” A kidney transplant patient developed pink skin bumps with spiny centers on her face and limbs.
124 citations
,
April 2000 in “Nature biotechnology”
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
6 citations
,
January 2014 in “American Journal of Medical Case Reports” Early diagnosis, intensive therapy, and careful follow-up are crucial for managing overlapping TTP and SLE.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
A patient with patchy hair loss was successfully treated for Tumid Lupus Erythematosus after other treatments failed.
50 citations
,
January 1941 in “Annals of Internal Medicine” Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
December 2023 in “Journal of dermatology” The study concluded that key signs of Keratosis follicularis spinulosa decalvans are changes in terminal hair and vellus hair follicles, which likely start the inflammation and damage to hair follicles.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
January 2021 in “American journal of dermatological research and reviews” The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
July 2022 in “International Journal of Contemporary Pediatrics” Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
26 citations
,
May 2001 in “British Journal of Dermatology” Pilomatrixomas likely originate from the hair matrix due to changes in hair keratin expression.
8 citations
,
June 2012 in “Journal of Crohn s and Colitis” Managing multiple autoimmune diseases in one patient is extremely challenging.
9 citations
,
October 1947 in “The Lancet” 1 citations
,
November 1947 in “The Lancet” 26 citations
,
December 1979 in “Journal of Cutaneous Pathology” Seborrheic keratoses may partly come from hair follicle cells.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.