research Becker's Nevus with Ipsilateral Breast Hypoplasia: Improvement with Spironolactone
Spironolactone may help enlarge a small breast linked to Becker's nevus.
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research SAT320 Cyclic Cushing Syndrome Caused By An ACTH-Producing Pheochromocytoma
A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research SAT-LB2 Elevated Testosterone Secondary to Leydig Cell Hyperplasia in Bilateral Ovaries
A woman's high testosterone and related symptoms were caused by overactive cells in her ovaries.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Alopecia areata and myasthenia gravis presenting as paraneoplastic phenomena of breast cancer
Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report
Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
research Acanthosis Nigricans during an HAIR-AN syndrome: "The Tree That Hides the Forest"
The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
research Rapunzel Syndrome: A Rare Cause of Biliary Obstruction
Trichobezoars can cause serious health issues like biliary obstruction, and treatment includes surgery and therapy to prevent recurrence.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research Schimmelpenning syndrome with dydimosis aplasticosebacea in a one-month-old girl
Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research A rare case of an androgen-producing stromal luteoma of the ovary in a postmenopausal woman, diagnosed by means of selective venous blood sampling
Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
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 Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.