research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
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research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research 190 A cross-sectional study evaluating skin, hair, nail and bone disease in patients with focal dermal hypoplasia
Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
research Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency (NC-3BHSD)
Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
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 Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Ectopic sebaceous gland: a developmental anomaly
A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
research Congenital Hypotrichosis with Hair and Dental Ectodermal Features Responsive to Sublingual Minoxidil
Sublingual minoxidil improved hair growth in a 10-year-old boy without side effects.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research Erosive pustular dermatosis of the scalp: challenges and solutions
Early treatment of EPDS can improve outcomes and reduce recurrence risk.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
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.