research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
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research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Alopecia triangularis congenita in combination with androgenetic alopecia
Hair loss improved with treatment and successful transplant.
research MICRO-MORPHOMETRIC STUDY OF SKIN IN DEVELOPING HUMAN FETUSES AND ITS CLINICAL RELEVANCE
Understanding fetal skin development helps diagnose congenital skin diseases.
research Ichthyosis with confetti: a rare diagnosis and treatment plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Le gènehairlessde la souris
The hairless gene is crucial for hair health, and its mutations cause hair loss.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents
Early and personalized treatment for hair loss in young people is crucial to prevent permanent damage and should include psychological support.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Secondary cicatricial and other permanent alopecias
The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
research Subcutaneous emphysema resulting from liquid nitrogen spray
Liquid nitrogen spray caused a temporary, harmless swelling under the skin in an elderly woman.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research British Hair and Nail Society
Men with a certain type of hair loss often use facial moisturizers, and a specific antibiotic treatment may help another hair condition.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Hair follicle stem cell progeny heal blisters while pausing skin development
Skin healing from blisters can delay hair growth as stem cells focus on repairing skin over developing hair.
research Secondary Cicatricial and other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
research Cutaneous manifestations of systemic infection in children
Skin symptoms are important for diagnosing infections in children.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research PATTERN OF SKIN DISEASES IN GERIATRIC PATIENTS ATTENDING TERTIARY CARE CENTRE
Older adults often have dry skin and itching, with high blood pressure frequently linked to skin problems.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.