research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
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research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research The expanding significance of keratin intermediate filaments in normal and diseased epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research A Case of Fox-Fordyce Disease
The woman's skin condition improved with specific oral and topical treatments.
research Eccrine Duct Dilation as a Marker of Cicatricial Alopecia
Enlarged sweat gland ducts may indicate scarring hair loss.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research Circle Hairs in a Patient with Multiple Myeloma
An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
research Perforating folliculitis with jaundice in an Indian male: a rare case with sclerosing cholangitis
Surgery resolved the man's skin and liver issues, and he stayed symptom-free for a year.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Eyelash Trichomegaly: Unusual Feature Associated with Systemic Lupus Erythematosus Patient
Long eyelashes in a patient were an unusual sign of systemic lupus erythematosus.
research Comparative Anatomy of Mouse and Human Nail Units
Mouse nails are similar to human nails, making them useful for studying nail diseases.
research Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice
Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Two cases of scalp white piedra caused byTrichosporon ovoides
Scalp white piedra can be treated with oral itraconazole and topical ketoconazole.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Combined Alopecia Areata and Acquired Hypertrichosis Lanuginosa in Celiac Disease- A Rarest Phenomenon
A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Histologic absence of yeast as a clue for classic lichen planopilaris, fibrosing alopecia in a pattern distribution, and frontal fibrosing alopecia: A cross-sectional observational study
research Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Lichen Spinulosus: Case Report and Review of Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.