research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
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840-870 / 1000+ resultsresearch 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Abrocitinib in the Treatment of Severe Alopecia Areata in a Pediatric Patient: A Case Report
Abrocitinib helped a 14-year-old girl with severe alopecia areata regrow her hair significantly.
research Areata-Like Lupus as a Clinical Manifestation of Cutaneous Lupus Erythematosus
Areata-like lupus can mimic alopecia areata but is a form of cutaneous lupus erythematosus.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research 1323 Human dermal fibroblasts and mast cell populations are altered in hidradenitis suppurativa, with epithelial-mesenchymal-transition signals ameliorated by spleen tyrosine kinase antagonism.
Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Miscellaneous conditions
The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Keratolysis in a patient with pemphigus vulgaris
Corneal issues in pemphigus vulgaris may require surgery if medication is not followed.
research The use of dermoscopy in a case of nevus sebaceous misdiagnosed and treated as cicatricial alopecia
Dermoscopy helped correctly diagnose a skin condition that was previously misidentified as a different hair loss disease.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Juvenile systemic lupus erythematosus presenting only as nonscarring alopecia
A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
research Pathologic Quiz Case: A Cutaneous Nodule on the Left Temple
The nodule was a benign cutaneous lymphadenoma, not cancer, and was successfully removed.
research HAIR-ROOT ADAPTATION TO MARASMUS IN ANDEAN INDIAN CHILDREN
Children with marasmus have more resting hair follicles and thinner, less pigmented hair, showing long-term malnutrition.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
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 Necrobiosis lipoidica of the scalp
A rare scalp condition caused scarring hair loss in a woman, improved slightly with treatment.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa
People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
research Alopécie fibrosante frontale associée à un lichen pigmentogène
Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
research 413 DC-HIL+ myeloid-derived suppressor cells are elevated in the peripheral blood and lesional skin of cutaneous lupus patients
Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.