research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
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180-210 / 1000+ resultsresearch Tabby pattern genetics – a whole new breed of cat
Two genes, Tabby and Ticked, determine cat coat patterns.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Exploring the Dermoscopic Patterns in Tuberous Sclerosis
Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
research Spurious Tetracycline Fluorescence in Hair
research Dermoscopic image of the hairs in a very early lesion of tinea capitis caused by Trichophyton rubrum
Early detection of tinea capitis is possible by spotting specific hair patterns like comma or corkscrew hairs.
research The clinicopathological spectrum of trichoepitheliomas: a retrospective descriptive study
Trichoepitheliomas can be hard to distinguish from other skin conditions and often start in teenage years.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
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 Immunohistochemical staining characteristics of epidermal appendages (hair follicles and eccrine sweat glands) to anti-epidermal keratin antisera
Hair follicles and sweat glands show different keratin staining patterns.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Targetoid Polycyclic Concentric Hair Regrowth Pattern Is a Sign of Immunological Recovery in Alopecia Areata
A targetoid hair regrowth pattern indicates recovery in alopecia areata.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Targetoid Hair Regrowth Pattern in Alopecia Areata: A Case Series
A rare hair regrowth pattern can occur in some people with alopecia areata.
research 772 Alopecia areata shares OX40 activation and Th1 and Th2 increases across atopic backgrounds
research Trichostasis Spinulosa
The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
research DP15 Syphilis: the chameleon disease. A case series of unexpected mimicry
Syphilis can mimic other diseases, making diagnosis challenging, but proper testing and treatment are effective.
research Monilethrix: a typical case report with microscopic and dermatoscopic findings
A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Acquired localized hypertrichosis.
A girl grew extra hair in areas where she had insect bites.