research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
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research MAD2B acts as a negative regulatory partner of TCF4 on proliferation in human dermal papilla cells
MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Alopecia Mimicking Lichen Planopilaris in a Patient with Mycosis Fungoides
Accurate diagnosis and treatment improved symptoms in a patient with alopecia linked to mycosis fungoides.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
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 Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Localized demodicosis due to Demodex cati on the muzzle of two cats treated with inhalant glucocorticoids
Demodicosis should be considered in cats with facial skin issues exposed to inhalant glucocorticoids.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Periorbital Pilomatrixoma
Pilomatrixoma is a rare, harmless tumor near the eyebrow in kids, best treated with surgery.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research Dissecting folliculitis (dissecting cellulitis) of the scalp: a 66‐patient case series and proposal of classification
Researchers found that dissecting folliculitis of the scalp is linked to obesity, severity increases with duration and number of nodules, and early treatment is important to prevent scarring.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
People with certain hair disorders may also have missing permanent teeth.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Roles for Msx and Dlx homeoproteins in vertebrate development
Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.