research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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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 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 Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Dermatologic Manifestations of Human Immunodeficiency Virus Infection
HIV can cause unusual and severe skin problems that are hard to treat.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Management of primary cicatricial alopecias: options for treatment
There are many treatments for permanent hair loss disorders, but their effectiveness varies and there's no clear best option.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Subject Index
The document lists various dermatology topics, treatments, and diagnostic methods.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis
The document concludes that changes in eyelashes and eyelid skin can indicate various local and systemic diseases.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Keratosis Follicularis
Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
research Cicatricial alopecia
Permanent hair loss from cicatricial alopecia is treated by reducing inflammation and managing symptoms, but regrowth in scarred areas is unlikely.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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 Immunopathogenesis of Primary Cicatricial Alopecia
Hair loss in Lichen Planopilaris is caused by immune system issues damaging hair follicles and stem cells.
research Alopecia in children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Eyebrow and Eyelash Alopecia: A Clinical Review
The review shows how to properly diagnose and treat the loss of eyebrow and eyelash hair.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Non‐infective mucocutaneous presentations of human immunodeficiency virus infection
Most HIV patients develop skin symptoms that can indicate the stage of their disease.
research Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Cholesterol homeostasis: Links to hair follicle biology and hair disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.