research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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510-540 / 1000+ results research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Screening Guidelines for Thyroid Function in Children With Alopecia Areata
Children with alopecia areata should only have thyroid screening if they have Down syndrome, a history of atopy, family history of thyroid disease, or signs of thyroid problems.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research An Adult With Hair Loss! a Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase (3β HSD) Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
research Mendelian randomization study highlights hypothyroidism as a causal determinant of alopecia areata
The study suggests that hypothyroidism may cause alopecia areata.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research Follicular Hybrid Cyst With Isthmic-Catagen, Pilomatrical, and Syringocystadenoma Papilliferum Components
A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research [The effect of 1, 25-dihydroxyvitamin D3 on cultured human hair follicle cells from a patients with vitamin D-dependent rickets type II with alopecia].
DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research [Hyperprolactinemia and hypophyseal hypothyroidism as cofactors in hirsutism and androgen-induced alopecia in women].
Hormonal imbalances, including high prolactin and thyroid issues, contribute to hair growth problems in women.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Inducible ß-Catenin Activation and PTEN Inactivation Elicit Follicular Tumours, Not Papillomas: A Potential Paradigm for Trichilemmomas in Cowden’s Disease
Activating β-catenin and inactivating PTEN cause follicular tumors, not papillomas, similar to those in Cowden’s Disease.
research Virilizing adrenocortical tumor: a case report
The removal of the adrenal tumor improved the patient's symptoms and reduced androgen levels, indicating successful surgery.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research Generalised Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
research Gene expression of type 2 17β hydroxysteroid dehydrogenase in scalp hairs of hirsute women
Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
research Vitamin D status in polycystic ovary syndrome
People with polycystic ovary syndrome often have low levels of vitamin D.
research 8273 ACTH-Dependent Cushing's Syndrome due to Metastatic Cervical Cancer: A Case Report
Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
research Skin tumors with matrical differentiation: lessons from hair keratins, beta‐catenin and PHLDA ‐1 expression
Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
research Hyperandrogenism in post-menopausal women: a diagnosis challenge
A woman had high testosterone due to an ovarian issue, which was fixed with surgery.
research Diagnostic Exercise: Severe Bilaterally Symmetrical Alopecia in a Horse
A horse with severe hair loss was diagnosed with alopecia areata and a yeast infection.
research Expression of type I hair keratins in follicular tumours
Pilomatrixomas likely originate from the hair matrix due to changes in hair keratin expression.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.