research Proliferating Trichilemmal Tumor Presenting as a Scrotal Mass in a Middle-Aged Male: An Uncommon Location
A rare benign tumor was found in a man's scrotum, highlighting the need for accurate diagnosis.
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870-900 / 1000+ results research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Hypertrichosis Lanuginosa Acquisita: When Hair Unravels the Unseen
Unexplained excessive hair growth can signal underlying cancer and often indicates a poor prognosis.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Eyebrow alopecia: centrofacial trichoblastomatosis
Recognizing eyebrow hair loss linked to a rare skin condition is crucial for proper treatment.
research 1270 Fibroproliferative genes are preferentially expressed in central centrifugal cicatricial alopecia
CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Central centrifugal cicatricial alopecia
CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Erosive pustulosis of the scalp:3 Cases (Fren)
Oral zinc gluconate and topical steroids significantly improved a rare scalp condition in three elderly patients.
research Current Therapeutic Approaches to Chronic Central Serous Chorioretinopathy
New treatments for chronic central serous chorioretinopathy show promise in preventing permanent vision loss.
research Unmasking pseudopelade of Brocq in male adult: a rare case report
Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research A Case Report on Recurrent Trichilemmal Carcinoma of Scalp- Role of Clinico-Radiological Correlation
Accurate diagnosis of rare scalp cancer requires combining clinical and radiological information.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
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.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Chronic Crusted Scalp Lesion of an Elderly Male
An elderly man's non-healing scalp lesion was successfully treated with a strong topical steroid.