research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
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720-750 / 1000+ resultsresearch Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Systemic lupus erythematosus presenting with homonymous hemianopia
Lupus can cause unusual vision problems, so it's important to consider it in such cases.
research Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia
Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
research Ovarian steroid cell tumor in a teenager masquerading as polycystic ovary syndrome: a case report and literature review
Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Diffuse idiopathic skeletal hyperostosis in a 33-year-old woman with PCOS and metabolic syndrome: a rare scenario
A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
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 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 Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-year-old Female
The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
research Adolescent Polycystic Ovary Syndrome
Early diagnosis and multidisciplinary care are crucial for managing PCOS in adolescents.
research Central serous chorioretinopathy after scalp and eyebrow intralesional triamcinolone acetonide injections: Report of two cases
Corticosteroid injections for hair loss may cause eye problems, so caution is needed.
research MON-594 Alternating Hypothyroidism and Hyperthyroidism Complicated by Thyroid Eye Disease
Clinicians should be aware of alternating thyroid conditions and their treatment.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Ophiasis Pattern Alopecia Areata in an Infant
Early recognition and treatment of atypical alopecia areata in infants are crucial.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.