Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome

Autor: Hideki Nakamura, Kazuko C. Sato-Matsumura, Shota Takashima, Yasuyuki Fujita, Toshifumi Nomura, Manami Maehara, Hiroshi Shimizu, Satoru Shinkuma, Riichiro Abe, Hasegawa Satoshi
Rok vydání: 2019
Předmět:
Collagen Type IV
Male
Pathology
medicine.medical_specialty
Heterozygote
hereditary osteo-onychodysplasia
Nephrosis
LIM-Homeodomain Proteins
lim-homeodomain protein
Fluorescent Antibody Technique
Dermatology
Basement Membrane
Type IV collagen
epidermal basement membrane
Microscopy
Electron
Transmission
Nail-Patella Syndrome
Predictive Value of Tests
Anchoring fibrils
Medicine
Humans
Genetic Predisposition to Disease
Child
Nail patella syndrome
integumentary system
business.industry
Hemidesmosome
Glomerular basement membrane
Infant
General Medicine
type iv collagen
medicine.disease
Lamina lucida
lmx1b
medicine.anatomical_structure
Phenotype
glomerular basement membrane
lim-homeobox transcription factor 1ß
RL1-803
Mutation
Lamina densa
Female
Epidermis
business
Biomarkers
Transcription Factors
Zdroj: Acta Dermato-Venereologica, Vol 99, Iss 12, Pp 1110-1115 (2019)
ISSN: 1651-2057
Popis: Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition. This paper reports 2 families with nail-patella syndrome. Direct sequencing analysis of LMX1B revealed that family 1 and family 2 were heterozygous for the mutations c.140-1G>C and c.326+1G>C, respectively. To evaluate the epidermal basement membrane zone, ultrastructural and immunohistochemical analyses were performed using skin specimens obtained from the dorsal thumb. Electron microscopy showed intact hemidesmosomes, lamina lucida, lamina densa, and anchoring fibrils. Immunofluorescence studies with antibodies against components of the epidermal basement membrane zone revealed a normal expression pattern among the components, including type IV collagen. These data suggest that nail dysplasia in patients with nail-patella syndrome is not caused by structural abnormalities of the epidermal basement membrane.
Databáze: OpenAIRE
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