research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
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240-270 / 1000+ results research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
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.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
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 CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Dynamics of procollagen type 1 N-terminal propeptide in postmenopausal osteoporosis during bisphosphonate therapy and transcranial electrical stimulation
Transcranial electrical stimulation with bisphosphonates helps maintain bone collagen better than bisphosphonates alone.
research Bone vs. fat: Embryonic origin of progenitors determines response to androgen in adipocytes and osteoblasts
Androgens affect bone and fat cell development differently based on the cells' embryonic origin.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research The effects of oestrogens on linear bone growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.