research A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
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research ADRENOCORTICAL ADENOMA AS A CAUSE OF HYPERANDROGENISM SYNDROME IN A GIRL: THE PATH TO DIAGNOSIS
A young girl's hyperandrogenism was caused by an adrenocortical adenoma, diagnosed and treated through detailed evaluations.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research Abstract 21: Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research G367(P) A chubby child: is this a sign of health or malnutrition?
A chubby child can still be malnourished.
research Hair Coil Penile Tourniquet Syndrome in an Unusual Age
An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research 688 Efficacy of topical Vorinostat in the reversal of alopecia areata
Topical Vorinostat shows promise for treating alopecia areata by promoting hair regrowth.
research 686 Evaluation of contamination and quantification of drug penetrations studies using Quantitative Mass Spectrometry Imaging
QMSI is a valuable method for studying drug penetration in skin tissues.
research 689 Efficacy of CD101, a novel echinocandin, in the treatment of dermatophytosis using a Guinea Pig (GP) Model
CD101 is highly effective in treating dermatophytosis in guinea pigs.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis
A 9-year-old boy had a rare scalp condition usually seen in young men.
research Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.