research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
Search
for
Sort by
Research
360-390 / 1000+ results 
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research A Complex Clinical Situation in Polycystic Ovary Syndrome: HAIR‐AN Syndrome ‘‘Case Report’’
Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research ODP021 A Feminizing Adrenocortical Carcinoma Presenting with Marie-Antoinette Syndrome
A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Correlation of Metabolic Syndrome in Different Phenotypes of Polycystic Ovary Syndrome and Pregnancy Rate
Different types of PCOS affect metabolic syndrome and pregnancy rates differently.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty
The document discusses a young boy with autism and early puberty but does not provide a conclusion on managing his behavior.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Polycystic ovary syndrome in men
Men with early balding may have hormonal imbalances similar to women with PCOS and could benefit from similar treatments.
research DIFFERENT HORMONAL PATTERNS IN PREP'UBERTAL HYPERTRICHOSIS
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Plica neuropathica: novel presentation of a rare disease
A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Remarks on the Hormonal Background of the Male Equivalent of Polycystic Ovary Syndrome
Men might have a version of the female disease, polycystic ovarian syndrome, shown by changes in hormone levels and early baldness, but more research is needed to fully understand it.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.