research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
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research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Proliferating Hybrid Follicular Tumor
A unique type of complex cyst was found on a man's scrotum.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report
A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
research An ear for an ear, but only if you are a deomyinid
Only Deomyinae rodents can regenerate complex tissues.
research Trichodaganomania: A Curious Habit
Trichodaganomania involves biting one's hair and needs combined psychological and medical treatment.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Alopecia Areata and Habit Tic Deformities
Nail issues are common in alopecia areata patients.
research Plica polonica: Trichoscopic findings with a brief literature review
Plica polonica is a rare condition where hair becomes irreversibly tangled, and the treatment is to cut the matted hair.
research Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps
Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
research Hypertrichosis of the pinnae in a patient using panitumumab
Panitumumab can cause excessive ear hair growth.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Radially patterned morphogenesis of murine hair follicle placodes ensures robust epithelial budding
research Ichtyosiform nevus in a 22-year-old woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Are 2D:4D finger-length ratios an indicator of androgenetic alopecia in males?
Right hand finger ratio may predict male hair loss.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.