research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
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research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Physical inactivity is a disease synonymous for a non-permissive brain disorder
Physical inactivity is a primary cause of many human illnesses.
research 0960 Evidence for resident memory T cells and necroptosis as drivers of fibrosis in eosinophilic fasciitis and morphea
Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Comorbid conditions in lichen planopilaris: A retrospective data analysis of 334 patients
Lichen planopilaris patients often have other health conditions too.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Patchy hair loss over the leg: a case of primary follicular mucinosis
A man in his 30s had patchy hair loss on his leg due to primary follicular mucinosis.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research 070 Bacillary Load and Reactional States in Leprosy - A Surge in Severity the COVID Era?
The COVID-19 pandemic has led to more severe cases of Leprosy due to delayed medical care.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research 015 Hypopigmented Mycosis Fungoides Progressing to Systemic Involvement- A Case Report and Review of Literature
A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Pathophysiology of the Behçet's Disease
Behçet's Disease may be caused by genetic and environmental factors leading to abnormal immune responses, and stress management and new treatments could improve patient outcomes.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Pathogenesis in bamboo hair
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Case number 19th of perforating necrobiosis lipoidica worldwide
The document reports the 19th global case of a rare skin condition in a patient from Colombia.
research UVEITIS WITH POLIOSIS, VITILIGO, ALOPECIA AND DYSACOUSIA (VOGT-KOYANAGI SYNDROME)
Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
research Inducible ß-Catenin Activation and PTEN Inactivation Elicit Follicular Tumours, Not Papillomas: A Potential Paradigm for Trichilemmomas in Cowden’s Disease
Activating β-catenin and inactivating PTEN cause follicular tumors, not papillomas, similar to those in Cowden’s Disease.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Gastric Trichobezoar in a 2‐Year‐Old Girl With Severe Malnutrition and Social Risk: A Case Report
Gastric trichobezoar in young children requires surgery and comprehensive care to prevent serious complications.