research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
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research Keratosis Pilaris Is a Keratinization of Hair Follicles
Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Seborrheic keratosis
Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
research Kératose pilaire
Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
research Presentations of Cutaneous Disease in Various Skin Pigmentations: Keratosis Pilaris
Recognizing keratosis pilaris in all skin tones helps diagnose related skin issues and reduce distress.
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 Trichostasis Spinulosa
The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
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 Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Coexpression of Keratins Characteristic of Skin and Hair Differentiation in Nail Cells
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research P5 Assembly of hair keratins in thansfected cultured cells
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research Trichostasis Spinulosa
The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
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 A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.