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.
15 citations
,
March 1996 in “PubMed” Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
11 citations
,
March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
November 2018 in “Journal of dermatology & cosmetology” The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
34 citations
,
December 1995 in “Pediatric Dermatology” Congenital Triangular Alopecia is a rare, non-scarring hair loss that can be surgically treated in females for cosmetic reasons.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
8 citations
,
November 2015 in “The American journal of dermatopathology/American journal of dermatopathology” Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
2 citations
,
July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
September 2024 in “Cosmoderma” The young man has complete hair loss and skin bumps, with no other health issues or family history.
19 citations
,
March 2013 in “Journal of Cutaneous Pathology” The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.
1 citations
,
January 2019 in “Dermatology Online Journal” A rare skin condition appeared on a 19-year-old woman's scalp.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
19 citations
,
May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
2 citations
,
January 2019 in “Acta dermato-venereologica” 17 citations
,
June 2016 in “Archives de Pédiatrie” Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
2 citations
,
January 2023 in “Annals of Dermatology” A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
2 citations
,
January 2011 in “Dermatologica Sinica” Taiwan reported its first case of a rare scalp condition with no clear cause or treatment.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
2 citations
,
July 2022 in “Pediatric dermatology” A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
36 citations
,
July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
18 citations
,
July 2001 in “International Journal of Dermatology” A 12-year-old boy's hair loss and skin issues improved significantly with medication.
May 2024 in “JAAD Case Reports” A young man was diagnosed with a rare hair loss condition usually seen in older women.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
March 2021 in “Revista da Associação Médica Brasileira” 61 citations
,
April 1969 in “Archives of Dermatology” Skin biopsy is crucial for diagnosing unknown baldness causes.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.