ABSTRACT
Abnormal hyperpolarization of the KCNK4 gene, expressed in the nervous system, brain, and periodontal ligament fibroblasts, leads to impaired neurotransmitter sensitivity, cardiac arrhythmias, and endocrine dysfunction, as well as, progressive cell proliferation. De novo gain of function variants in the KCNK4 gene were reported to cause a recognizable syndrome characterized by facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth (FHEIG, OMIM# 618381). FHEIG is extremely rare with only three reported cases in the literature. Herein, we describe the first inherited KCNK4 variant (c.730G>C, p.Ala244Pro) in an Egyptian boy and his mother. Variable phenotypic expressivity was noted as the patient presented with the full-blown picture of the syndrome while the mother presented only with hypertrichosis and gingival overgrowth without any neurological manifestations. The c.730G>C (p.Ala244Pro) variant was described before in a single patient and when comparing the phenotype with our patient, a phenotype-genotype correlation seems likely. Atrial fibrillation and joint laxity are new associated findings noted in our patient extending the clinical phenotype of the syndrome. Dental management was offered to the affected boy and a dramatic improvement was noted as the patient regained his smile, restored the mastication function, and resumed his psychological stability.
Subject(s)
Fibromatosis, Gingival , Gingival Overgrowth , Hypertrichosis , Intellectual Disability , Male , Humans , Fibromatosis, Gingival/diagnosis , Fibromatosis, Gingival/genetics , Hypertrichosis/genetics , Pedigree , Gingival Overgrowth/complications , Phenotype , Syndrome , Dental Care/adverse effects , Intellectual Disability/genetics , Intellectual Disability/complications , Potassium Channels/geneticsABSTRACT
According to the last edition of the World Health Organization classification, cribriform adenocarcinoma of salivary glands (CASGs) was considered a variant of polymorphus adenocarcinoma although many authors proposed CASG as a distinct neoplasm. The aim of this study was to report an unusual presentation of CASG in the buccal mucosa of a 63-year-old male patient that showed signs of encapsulation and no evidence of lymph node metastasis. The lesion was composed of lobules of tumoral cells arranged in solid nests, sheets, papillary, and cribriform or glomeruloid patterns. Most of the peripheral cells show palisaded arrangement with peripheral clefting from the adjacent stroma. Surgical resection of the lesion was done and further neck dissection was recommended.
