April 2026 in “Case Reports in Dermatology” Tofacitinib effectively treated a woman's complex autoimmune and autoinflammatory disorders.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
1 citations
,
January 2015 in “Journal of Arthritis” Lupus pneumonitis can mimic tuberculosis and should be considered in diagnoses.
13 citations
,
June 2011 in “PubMed” The patient improved significantly after treatment, with only one small scar remaining.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
21 citations
,
April 2000 in “Journal of Cutaneous Pathology” The hamartoma is an abnormal hair growth with limited development in the upper hair follicle.
January 2015 in “프로그램북(구 초록집)” A 25-year-old man had an unusual case of benign skin tumors and hair loss.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
79 citations
,
October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
8 citations
,
July 2014 in “American Journal of Dermatopathology” Cutaneous keratocyst and steatocystoma should be called "sebaceous duct cyst" due to their similarities.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
April 2025 in “Asian Journal of Case Reports in Surgery” Trichilemmal carcinoma is a rare skin cancer that requires careful diagnosis and follow-up.
2 citations
,
March 2020 in “Skin” Using cidofovir cream for a rare skin disease can cause skin darkening.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
35 citations
,
September 2003 in “Archives of dermatology” Tiger tail bands in hair are caused by wavy hair fibers with melanin, unlike straight fibers in normal hair.
324 citations
,
May 2002 in “Oncogene” 54 citations
,
May 1999 in “Journal of Cutaneous Pathology” Apocrine type cutaneous mixed tumors often resemble hair follicles, sebaceous glands, and apocrine glands.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
24 citations
,
September 2014 in “Journal of the European Academy of Dermatology and Venereology” Trichoscopy is reliable for diagnosing Temporal Triangular Alopecia and can prevent unnecessary biopsies and wrong treatments.
22 citations
,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
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.
1 citations
,
June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.