ABSTRACT
Gaucher disease is a rare lysosomal storage disorder caused by a deficiency in glucocerebrosidase. This enzyme deficiency leads to the accumulation of toxic metabolites in various organs. Multiple subtypes of this disease have been described; however, the perinatal-lethal form is extremely rare and challenging to diagnose. We present a case of a newborn girl with ichthyosis, petechiae, and arthrogryposis, later found to be homozygous for a pathogenic variant of the glucocerebrosidase gene. This case highlights the potential role of dermatologists in the recognition of this rare disease.
Subject(s)
Arthrogryposis , Gaucher Disease , Ichthyosis, Lamellar , Ichthyosis , Purpura , Infant, Newborn , Pregnancy , Female , Humans , Glucosylceramidase/genetics , Glucosylceramidase/metabolism , Arthrogryposis/diagnosis , Arthrogryposis/genetics , Arthrogryposis/complications , Ichthyosis/genetics , Gaucher Disease/genetics , Gaucher Disease/pathology , Ichthyosis, Lamellar/complicationsABSTRACT
Neoplasms consisting of different cell lineages within a single skin specimen are rare, yet well documented in the literature. However, to date, there appears to be no report of invasive melanoma arising directly from the passenger melanocytes of a basal cell carcinoma (BCC). We present a case of a 91-year-old male with a suspicious lesion on the ear. Histopathology and immunohistochemical staining revealed BCC closely intertwined with invasive melanoma that exhibited foci of chondroid differentiation. The melanoma appeared to arise from the benign-appearing passenger melanocytes of the BCC and lacked connection to the overlying epidermis or an in situ component. Multiple dermatopathologists reviewed the case and agreed that the most likely explanation for the histopathologic findings was that the invasive melanoma arose from the passenger melanocytes within the BCC.
