research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
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360-390 / 1000+ resultsresearch A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
research Body Focused Repetitive Behavior at an Unusual Site and in an Unusual Pattern - Symmetrical Trichotillomania
Trichotillomania can occur in unusual patterns and sites, highlighting the need for awareness and treatment options.
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 Trichotillomania: behavioral symptom or clinical syndrome? [clinical conference]
Trichotillomania is a complex condition involving compulsive hair pulling that causes distress and hair loss.
research TRANSTORNOS DE PERSONALIDADE: ETIOLOGIAS E DESAFIOS DIAGNÓSTICOS
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Miasmatic evolution in polycystic ovarian syndrome with reportorial analysis
Certain factors can trigger hormonal imbalances and cyst formation, leading to Polycystic Ovarian Syndrome (PCOS).
research Homo- and heteropolymer self-assembly of recombinant trichocytic keratins
Recombinant keratins can form useful structures for medical applications, overcoming natural keratin limitations.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
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 Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research Masquerading of trichotillomania in a family with monilethrix
It's important to consider genetic hair disorders when diagnosing hair loss.
research Transduction‐induced overexpression of Merkel cell T antigens in human hair follicles induces formation of pathological cell clusters with Merkel cell carcinoma‐like phenotype
Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
research KERATIN PHENOTYPES IN BASAL-CELL CARCINOMAS OF THE SKIN
Basal cell carcinoma shows keratin patterns similar to hair follicle structures.
research HHV-6 reactivations in immunocompetent patients with psychiatric disorders: visual hallucinations or possible interactions?
HHV-6 reactivation may be linked to psychiatric disorders and can improve with antiviral treatment.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research The clinical features and histopathologic patterns of folliculotropic mycosis fungoides in a series of 38 cases
Recognizing diverse presentations of folliculotropic mycosis fungoides is crucial to avoid diagnostic errors.
research Ribonucleic Acids Coding for the Keratin Complex of Hair
Keratin proteins in hair are complex and come from multiple gene families.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Obsessive-compulsive skin disorders: a novel classification based on degree of insight
The new classification system for skin disorders emphasizes the importance of understanding a patient's awareness of their condition for better treatment.