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.
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research Case number 19th of perforating necrobiosis lipoidica worldwide
The document reports the 19th global case of a rare skin condition in a patient from Colombia.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Obstetric and Gynecologic Dermatology
A pregnant woman's skin condition improved after giving birth, possibly due to high estrogen levels during pregnancy.
research Dermoscopic Assessment of Pityriasis Versicolor: A Cross-Sectional Observational Study
Dermoscopic features can help identify and differentiate types of pityriasis versicolor.
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 Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Localization of Type I Human Skin Collagenase in Developing Embryonic and Fetal Skin
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Eruptive Vellus Hair Cysts
Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few effective treatments.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Vitiligo – Study In view of familial occurence
Vitiligo often runs in families and is linked to genetics and autoimmune factors.
research Long-term follow-up of leucoderma patients treated with transplants of autologous cultured melanocytes, ultrathin epidermal sheets and basal cell layer suspension
Transplantation is effective for stable leucoderma but not for progressive, widespread vitiligo vulgaris.
research C001 Lymphoproliferative disorders
Skin lymphoproliferative disorders are hard to diagnose and often linked to systemic diseases, but most have a good prognosis with accurate diagnosis.
research Dermatological findings in common rheumatologic diseases in children
Children with different rheumatologic diseases have specific skin symptoms that can help with diagnosis.
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 Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Congenital alopecia areata: a systematic review
Congenital alopecia areata may be genetic, and topical corticosteroids often help regrow hair.
research SkIndia Quiz 24: Itchy papules over face
A rare skin condition called Eruptive Vellus Hair Cyst can cause itchy papules on the face.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Cutaneous alternariosis in a patient with idiopathic pulmonary fibrosis
A 78-year-old farmer with lung disease had skin lesions from a fungal infection that healed completely with medication.