research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
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330-360 / 1000+ resultsresearch Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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 A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
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 Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research 50842 Mohs micrographic surgery for nail-unit squamous cell carcinoma
research Postcast hypertrichosis in a patient with frontal fibrosing alopecia
A patient with hair loss condition grew excessive hair in areas covered by a cast.
research Nail changes in non-infectious skin diseases: a narrative review
Recognizing nail changes helps diagnose and treat non-infectious skin diseases.
research ERYTHROMELANOSIS FOLLICULARIS FACIEI ET COLLI
Three Iranian men had reddish-brown facial pigmentation with no effective treatment.
research Lipodermatosclerosis: a postphiebitic syndrome
The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
research Clinical and demographic factors associated with nail involvement in adult alopecia areata patients at Al-Kadhmia teaching hospital, Baghdad, 2023
Nail changes in alopecia areata are common and may indicate severity and genetic risk.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research Regulation of Keratin 9 in Nonpalmoplantar Keratinocytes by Palmoplantar Fibroblasts Through Epithelial–Mesenchymal Interactions
Nonpalmoplantar skin cells can be made to express keratin 9 by interacting with palmoplantar fibroblasts.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Multi-Melanonychia Striata in a Case of Systemic Lupus Erythematosus with Concomitant Chilblain Lupus
Hydroxychloroquine may cause nail discoloration in lupus patients.
research Non-Invasive Quick Diagnosis of Cardiovascular Problems from Visible and Invisible Abnormal Changes with Increased Cardiac Troponin I Appearing On Cardiovascular Representation Areas of the Eyebrows, Left Upper Lip, etc. of the Face & Hands: Beneficial Manual Stimulation of Hands for Acute Anginal Chest Pain, and Important Factors in Safe, Effective Treatment
Visible and invisible changes on the face and hands can indicate heart problems, and manual hand stimulation can relieve chest pain.
research Acquired localized hypertrichosis.
A girl grew extra hair in areas where she had insect bites.
research Ipsilateral post-cast hypertrichosis and dyshidrotic dermatitis
A patient developed excess hair and skin issues on the same side after wearing a cast.
research Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia
Acitretin helped improve hand mobility and skin condition in a patient.
research Malassezia Display a Hyphae-like “Spaghetti-and-Meatballs” Configuration in Keratotic Plugs
Malassezia fungi in healthy noses can form a "spaghetti-and-meatballs" structure.
research Pathogenesis of Hand-Foot Syndrome induced by PEG-modified liposomal Doxorubicin
PEGL-DOX causes Hand-Foot Syndrome due to skin reactions from prolonged circulation and ROS generation.
research Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus
Digital gangrene can be an initial symptom of late-onset systemic lupus erythematosus.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Cutaneous manifestations of chronic alcoholism: a cross sectional study in a tertiary care centre in South India
Chronic alcoholics most commonly experience skin infections.
research Identification of Familial Infections Using Multilocus Microsatellite Typing in Tinea Corporis due to Microsporum canis
A mother and her two daughters got a skin infection from their cat.