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420-450 / 1000+ resultsresearch 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 An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
research Chronic Skull Osteomyelitis following Skin Graft: A Case Report and Literature Review
A young girl developed serious bone inflammation in her skull after a skin graft, which is a rare but severe condition.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects
The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Dissecting Cellulitis of the Scalp Successfully Treated with a Combination of Ixekizumab and Tofacitinib
A combination of ixekizumab and tofacitinib successfully treated severe scalp cellulitis, leading to hair regrowth.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Primary Cicatricial Alopecias
Early diagnosis and aggressive treatment are key for managing rare scalp disorders that cause permanent hair loss.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
research Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis
FFA's causes may include environmental triggers and genetic factors.
research Frontal fibrosing alopecia: clinical and prognostic classification
Researchers found three patterns of Frontal fibrosing alopecia, with Pattern III having the best prognosis after treatment.
research Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells
Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Dengue-Associated Telogen Effluvium Causing Body Dysmorphic Disorder
Dengue fever can cause hair loss that may lead to serious psychological issues like Body Dysmorphic Disorder in young women.
research Alopecia frontal fibrosante. Valoración diagnóstica y terapéutica
Early diagnosis of frontal fibrosing alopecia is crucial to prevent permanent hair loss.
research A Cell Membrane-Level Approach to Cicatricial Alopecia Management: Is Caveolin-1 a Viable Therapeutic Target in Frontal Fibrosing Alopecia?
Targeting the protein Caveolin-1 might help treat a type of scarring hair loss called Frontal Fibrosing Alopecia.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.