Subject(s)
Carcinoma, Squamous Cell/metabolism , Carcinoma, Squamous Cell/pathology , Chemokine CCL2/metabolism , Interleukin-6/metabolism , Skin Neoplasms/metabolism , Skin Neoplasms/pathology , Aged , Biopsy , Carcinoma, Squamous Cell/therapy , Combined Modality Therapy , Diagnosis, Differential , Humans , Lymph Node Excision , Lymphatic Metastasis , Male , Neoplasm Invasiveness , Skin Neoplasms/therapy , WristABSTRACT
BACKGROUND: Pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB) is a rare subgroup of epidermolysis bullosa, which is inherited disorder characterized by skin fragile. PA-JEB is caused by mutation of ITGB4 or ITGA6, which encodes integrin ß4 or α6, respectively. OBJECTIVE: To clarify the molecular basis of PA-JEB and to expand the mutational database, we carried out the mutational analysis of a 29-year-old Japanese PA-JEB patient. METHODS: Standard methods were used to prepare, PCR-amplify, and sequence DNA or mRNA in peripheral blood or skin samples, respectively. RESULTS: Sequence analysis revealed two novel mutations in ITGB4, c.264+2TtoA and c.1762-25TtoA. The paternal c.264+2TtoA resided within a splice site consensus region and generated two splice variants resulting in a premature termination codon (PTC). The maternal c.1762-25TtoA was a unique mutation because of its location, 25 bp away from the splice site, and resided in branch-point consensus sequence. This c.1762-25TtoA substitution resulted in generation of two abnormal transcripts each with a PTC. Genotype-phenotype correlation in this case was also unique because the proband showed a non-lethal phenotype regardless of both mutations resulted in only abnormal transcripts with a PTC. CONCLUSION: The present case expands the mutational database and further elucidates the genotype-phenotype correlation for this rare disease, PA-JEB.
Subject(s)
Ectodermal Dysplasia/genetics , Integrin beta4/genetics , Mutation , RNA Splicing , Adult , Biopsy , DNA Mutational Analysis/methods , Ectodermal Dysplasia/diagnosis , Fluorescent Antibody Technique , Genetic Association Studies , Genetic Markers , Genetic Predisposition to Disease , Humans , Integrin beta4/analysis , Male , Microscopy, Electron , Phenotype , Reverse Transcriptase Polymerase Chain Reaction , Skin/chemistry , Skin/ultrastructureABSTRACT
Acral lentiginous melanoma (ALM) of the sole sometimes has a hyperkeratotic appearance and mimics a pigmented wart. We report a case of an 81-year-old woman with an ALM on the left sole with hyperkeratosis. Due to its presentation it was difficult to make a correct diagnosis at the beginning. Finally we noticed several small, pigmented macules around the wart-like lesion with the parallel ridge pattern on dermoscopy, strongly suggesting acral melanoma. When a hyperkeratotic pigmented lesion on the sole is encountered, one should rule out melanoma by careful examination of the periphery of the lesion. Dermoscopy is a helpful adjunct for the diagnosis of an unusual case like this.
