research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
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390-420 / 1000+ results research Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplements effectively treat acrodermatitis enteropathica.
research Unusual dermoscopic features in a patient with alopecia areata
Alopecia areata can show unusual red-dotted vessels and dithranol treatment may mask typical patterns.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Dermatophytosis caused by Trichophyton mentagrophytes in the Southern Chamois (Rupicapra pyrenaica) in the Eastern Pyrenees
Two southern chamois in the Eastern Pyrenees had skin infections caused by a fungus.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Microsporum gypseum isolated from a feline case of dermatophytosis
A young cat had a rare fungal infection caused by Microsporum gypseum.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Pseudoxanthoma-like late-onset focal dermal elastosis
A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D
The child's body didn't respond well to vitamin D, causing hair loss and rickets.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Reduced level of 25-hydroxyvitamin D in chronic/relapsing Alopecia Areata
People with chronic Alopecia Areata often have lower vitamin D levels.
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 A Case of Topical Ruxolitinib Treatment Failure in Alopecia Areata
Topical ruxolitinib failed to regrow hair in a 66-year-old with alopecia areata.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Aseptic Necrosis of Warts Instead of Lymphangitis
Some people may naturally have beaded lines on their skin that are more visible with certain treatments, and hair loss similar to post-pregnancy can occur after specific diet and therapy.
research TRACHYONYCHIA ASSOCIATED WITH ALOPECIA AREATA AND SECONDARY ONYCHOMYCOSIS
An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.