research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
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research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Polycystic Ovary Syndrome – Support and Prevention in Adolescence
Adolescents with PCOS need tailored diagnosis and support, including lifestyle advice and managing related health issues.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research A Case of Proliferating Trichilemmal Cyst with Trichoepitheliomatous Change
A young woman had a rare scalp tumor usually found in older women.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Dermoscopy of annular elastolytic giant cell granuloma
Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Late-Onset Eruptive Clear Cell Syringoma: A Case Report and Literature Review
Elderly patients with eruptive skin bumps may have clear cell syringoma linked to glucose issues.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Alopecia in Cronkhite–Canada syndrome: Is it truly telogen effluvium?
Hair loss in Cronkhite-Canada syndrome may be caused by autoimmune factors, not just stress or malabsorption.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Anagen effluvium
Hair usually grows back 1-3 months after treatment for anagen effluvium, and children with Loose Anagen Hair Syndrome often improve by adolescence.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Spontaneous improvement of Cronkhite-Canada syndrome in a postpartum female
A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
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 A girl struggling with extremely unruly hair
The girl likely has Loose anagen hair syndrome, which may improve on its own or with minoxidil.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research G588(P) Transient renal and hepatic dysfunction in severe profound hypothyroidism
Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2
A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Hyperthyroidism in Children
Graves' disease mainly causes hyperthyroidism in children, especially girls aged 10-14, with treatment options including medication, radioactive iodine, and surgery.
research An unusual case report of rapunzel syndrome trichobezoar in a 3-year-old boy
A 3-year-old boy had a rare hairball condition usually seen in teenage girls.