research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
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research Hyperadrenocorticism in Ferrets
Hyperadrenocorticism in ferrets is linked to neutering and indoor housing, and is best treated with surgery and a deslorelin implant.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research SUN-585 A Case of Atypical Myxedema in Hypothyroidism
A woman with severe hypothyroidism had a rare skin condition usually linked to a different thyroid disease.
research Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
research Ipsilateral post-cast hypertrichosis and dyshidrotic dermatitis
A patient developed excess hair and skin issues on the same side after wearing a cast.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Dual transposition flaps for the reconstruction of large scalp defects
Technique effectively reconstructs large scalp defects with minimal hair loss and visible scarring.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research Šunų Kraujo Rodiklių ir kliniškai Simptomų pokyčių įvertinimas, esant prieinksčių funkcijų sutrikimams
Clinical signs and blood tests are not very helpful in diagnosing hyperadrenocorticism in dogs.
research 6525 Alternating Hypothyroidism and Hyperthyroidism Complicated by Thyroid Eye Disease
A woman experienced fluctuating thyroid conditions and eye disease, but her symptoms improved with treatment.
research A case of systemic lupus erythematosus complicated with aortic regurgitation due to bacterial endocarditis
Dental procedures and immunosuppressants can lead to heart infections in lupus patients.
research Case Report: ACTH- and CRH-secreting pheochromocytoma as a very rare cause of ectopic Cushing syndrome
A rare tumor caused unusual hormone production leading to Cushing syndrome.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Valproic acid – induced Pleuro-pericardial Effusion
Valproic acid can rarely cause fluid buildup around the lungs and heart.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research Dermoscopy of a Congenital Pigmented Lesion: A Case of Supernumerary Nipple
A supernumerary nipple was correctly identified using dermoscopy, avoiding misdiagnosis.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development
Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
research Digoxin-induced anemia among patients with atrial fibrillation and heart failure: clinical data analysis and drug-gene interaction network
Digoxin is linked to a higher risk of anemia in patients with atrial fibrillation and heart failure.
research Cryptococcoid Sweet syndrome: A case report and literature review
Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.