research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
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research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research Fibrous Papule of the Face, Similar to Tuberous Sclerosis Complex-Associated Angiofibroma, Shows Activation of the Mammalian Target of Rapamycin Pathway: Evidence for a Novel Therapeutic Strategy?
Topical rapamycin may effectively treat fibrous papules on the face.
research Message of nexin 1, a serine protease inhibitor, is accumulated in the follicular papilla during anagen of the hair cycle
Nexin 1 may help control hair growth.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Folliculotropic mycosis fungoides with central nervous system involvement: Demonstration of tumor clonality in intrafollicular T cells using laser capture microdissection
Folliculotropic mycosis fungoides can affect the central nervous system in advanced stages.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions
Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
research Familial frontal fibrosing alopecia in two male families
Frontal fibrosing alopecia has occurred in two related male families.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Neuroendokrine paraneoplastische Syndrome
Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
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 Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Expression of Snail1 in the fibrotic dermis of postmenopausal frontal fibrosing alopecia: possible involvement of an epithelial-mesenchymal transition and a review of the Japanese patients
Snail1 may contribute to fibrosis in frontal fibrosing alopecia in postmenopausal women.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Trichofolliculoma in a Family – An Unusual Occurrence
A rare family case of multiple benign hair follicle tumors was identified, highlighting the need to distinguish them from similar conditions.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Giant Congenital Blue Nevus Presenting as Cutis Verticis Gyrata: A Case Report and Review of the Literature
Surgical removal is advised for large congenital blue nevi due to rare cancer risk.
research Increased expression of nerve growth factor and neurokinin-1 alarm the hair loss in female with trichodynia
Higher levels of certain nerve-related proteins are linked to hair loss in women with scalp pain.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Frontal fibrosing alopecia: A multicentric case-control study
research Plica Neuropathica in 2 Hispanic Patients
Two Hispanic women developed Plica neuropathica, a condition causing tangled hair, possibly due to hair damage and various risk factors.
research Follicular mucinous nevus: A possible new variant of mucinous nevus
Researchers found a potential new type of skin growth called follicular mucinous nevus.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis
Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.