April 2016 in “Journal of Investigative Dermatology” Sonic hedgehog signaling is needed for the development of touch-receptor cells in the skin, and the loss of Polycomb repressive complex 2 can lead to more of these cells.
15 citations
,
April 1997 in “Muscle & Nerve” 5 citations
,
April 1997 in “Muscle & Nerve” 31 citations
,
May 1960 in “A M A Journal of Diseases of Children” Parathyroid adenoma can cause hyperparathyroidism and hair loss in children.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
June 2011 in “European Journal of Pediatric Dermatology” An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
5 citations
,
March 1981 in “PubMed” A girl grew extra hair in areas where she had insect bites.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
June 2026 in “Communications Biology” Hoxc13 and hair keratin are needed for forming rough skin on frog mating pads.
19 citations
,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
28 citations
,
January 2012 in “Case Reports in Medicine” Hair-thread Tourniquet Syndrome, where hair or thread tightly wraps around a body part, is not rare and requires early detection to prevent serious damage.
January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
1 citations
,
May 2023 in “Cureus” A rare hair follicle tumor in the hand was successfully removed with no return after four years.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
5 citations
,
May 2019 in “Anais Brasileiros de Dermatologia” Finger length ratios might predict risk for skin condition in males.
January 2024 in “The Indian Veterinary Journal” A young goat with skin issues improved with medication and supplements.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
47 citations
,
February 2014 in “Journal of Cutaneous Pathology” Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
January 2024 in “Revista del Centro Dermatológico Pascua” Avoiding damage and using specific shampoo and supplements improved the hair condition.
April 2021 in “Authorea (Authorea)” A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.