April 2024 in “Diagnostics” Most orthodontic patients with missing teeth also have hair disorders.
January 2024 in “Archives of pharmacy practice” The skin is vital for protection, temperature control, fluid balance, immunity, and sensing, with damage affecting daily life and mental health.
November 2022 in “Research Square (Research Square)” Keratin-associated proteins have ancient origins and were used for different purposes before being adapted for hair in mammals.
A new genetic mutation was found causing hair and eye issues in a boy.
June 2001 in “European Journal of Dermatology” A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
58 citations
,
April 2009 in “Current stem cell research & therapy” Adult stem cells can become many different cell types, offering wide possibilities for repairing damaged tissues.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
18 citations
,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
24 citations
,
January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
7 citations
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July 2006 in “Journal of cutaneous pathology” A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
1 citations
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August 1981 in “The Journal of Dermatology” All major hair defects involve cuticle abnormalities.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
7 citations
,
November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
5 citations
,
December 2016 in “Microscopy Research and Technique” EPI-NCSCs from hair follicles may help treat brain development issues in mice.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.