research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
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research Case of alopecia universalis accompanied by minimal change nephrotic syndrome
A possible link exists between minimal change nephrotic syndrome and complete hair loss.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Clinical picture of infectious syphilis
The document concludes that syphilis has varied symptoms that are often missed, making clinical awareness crucial for diagnosis.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research 0475 High-dose UVA-1 therapy improves patient-reported outcomes and clinical scores in patients with sclerosing skin disease
High-dose UVA-1 therapy improves symptoms and skin condition in sclerosing skin disease.
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 Two Clinically Unusual Cases of Folliculotropic Mycosis Fungoides: One with and the Other without Syringotropism
Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
research (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report
Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
research Edematous striae distensae
The girl's swelling and skin issues improved with fluid restriction and diuretics.
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 Basaloid follicular hamartoma, total body hair loss and SLE
Aggressive SLE treatment helped hair regrowth and improved oral plaque, but scalp lesions stayed.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
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 Treatment of localized scleroderma and lichen sclerosus with etretinate
Etretinate has only moderate effects on localized scleroderma and lichen sclerosus.
research An unusual variant of granulomatous adnexotropic cutaneous T-cell lymphoma
A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
research Lupus comédonien
A man was diagnosed with a rare form of lupus after showing unique skin symptoms that responded well to treatment.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research Castleman’s Disease Combined with the Development of Systemic Lupus Erythematosus
A 16-year-old boy with Castleman's disease and lupus was successfully treated and showed no recurrence.
research PO.8.170 Drug-induced lupus or systemic lupus erythematosus after experimental COVID-19 therapy: difficulties in differential diagnosis
Distinguishing drug-induced lupus from systemic lupus is challenging and requires careful monitoring.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases
Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.