6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
December 2022 in “Laboratory Animal Research” Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
30 citations
,
May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
52 citations
,
October 1997 in “American Journal of Psychiatry” Trichotillomania is a complex condition involving compulsive hair pulling that causes distress and hair loss.
5 citations
,
January 1999 in “Pediatric Dermatology” A young girl had both alopecia areata and immune thrombocytopenic purpura at the same time, suggesting a possible link between the two.
6 citations
,
October 2009 in “Veterinary Dermatology” Canine claws have complex structures with different keratin types, similar to hair and nails.
20 citations
,
January 2005 in “Australasian Journal of Dermatology” A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
147 citations
,
August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
29 citations
,
February 2019 in “Pediatric dermatology” Trichotillomania shows specific signs like black dots and uneven hair lengths but lacks certain features of alopecia areata.
26 citations
,
August 2014 in “Veterinary Dermatology” Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
6 citations
,
January 2020 in “Postepy Dermatologii I Alergologii” Trichoscopy is useful for diagnosing hair-pulling disorder.
1 citations
,
January 2019 in “Pan African Medical Journal” Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
20 citations
,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
24 citations
,
July 2005 in “Journal of the American Academy of Dermatology” A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
24 citations
,
January 1998 in “Dermatology” Merkel cell increase is specific to certain skin diseases, not general skin growth.
August 2021 in “Acta medica Philippina” A girl's hair loss was found to be caused by both a hair-pulling disorder and another hair loss condition.
5 citations
,
March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
3 citations
,
January 2018 in “Skin Appendage Disorders” Nail issues are common in alopecia areata patients.
January 2025 in “International Journal of Trichology” Trichotillomania can occur in unusual patterns and sites, highlighting the need for awareness and treatment options.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
75 citations
,
September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.