7 citations
,
May 1978 in “Acta Dermato Venereologica” A 36-year-old man had unusual skin lesions on his face without hair loss.
20 citations
,
July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
1 citations
,
April 2023 in “Clinical, cosmetic and investigational dermatology” Antigens from skin cells may cause hair loss in perinevoid alopecia.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
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.
6 citations
,
May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
January 2025 in “Indian Dermatology Online Journal” Treatment reduced cystic lesions but didn't change existing Nevus Comedonicus.
89 citations
,
June 2012 in “Anais Brasileiros de Dermatologia” Actinic keratosis can lead to skin cancer, is more common in fair-skinned people, and can be reduced with sunscreen and treated effectively.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
June 2018 in “CRC Press eBooks” Foals can have various skin issues, some genetic, immune-related, or due to infections and allergies.
December 2022 in “The journal of pediatrics/The Journal of pediatrics” A young girl's foot lesion was actually a rare condition caused by a hair fragment under the skin, not a parasite.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
Acne keloidalis nuchae causes scarring on the scalp, mainly in African American males, and early treatment is important to prevent lasting damage.
Mutations in specific genes cause different types of ectodermal dysplasias.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
January 2022 in “Clinical Cases in Dermatology” A 4-year-old boy has a rare type of hair loss in a line pattern on his scalp.
20 citations
,
November 2004 in “Archives of Pathology & Laboratory Medicine” A rare benign skin growth called melanocytic matricoma was identified in a 69-year-old man.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
185 citations
,
December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.