33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
1 citations
,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
19 citations
,
June 2020 in “BMC Cancer” Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
23 citations
,
January 1964 in “Archives of Dermatology” Treatment with vitamin A did not improve the child's skin condition.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
August 2017 in “Companion animal” Focal alopecia in dogs has many causes and requires various tests for accurate diagnosis and treatment.
82 citations
,
November 1985 in “Archives of Dermatology” The newborn's skin condition improved over time, leaving only lighter skin patches.
5 citations
,
October 2012 in “The Journal of Dermatology” Traumatic panniculitis can cause increased hair growth in affected areas.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
1 citations
,
August 1981 in “The Journal of Dermatology” All major hair defects involve cuticle abnormalities.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
1 citations
,
January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
6 citations
,
May 2002 in “British journal of dermatology/British journal of dermatology, Supplement” A rare skin condition linked to leukemia improved with chemotherapy.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
December 2024 in “Chemical Senses” Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
9 citations
,
January 2015 in “Veterinary record case reports” A dog in Germany was successfully treated for a rare bacterial infection without spreading it to humans.
February 2026 in “International Journal of Homoeopathic Sciences” Plica Polonica is a rare hair disorder causing severe matting, managed by detangling or cutting, and prevented with regular hair care.
8 citations
,
January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
September 2011 in “Archives of dermatology” The child was diagnosed with cutaneous leishmaniasis.