T-cell lymphoblastic lymphoma (T-LBL) is frequently revealed by amediastinal mass or peripheral lymphadenopathy. Skin lesions in T-LBLusually present as multiple nodules associated with multiple peripherallymphadenopathy and bone marrow invasion. Our patient is particular bythe revealing presentation of the lesions as Cutis verticis gyrate.
INTRODUCTION: X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from one laboratory to another depending on available technical facilities. Our work aims to figure out a sound diagnostic strategy for XLI. PATIENTS AND METHODS: We collected 8 patients with XLI, all males, from 3 unrelated Tunisian families from central Tunisia. Genetic diagnosis was conducted through a large panel of genetic techniques including: Sanger Sequencing, haplotype analysis of STR markers, MLPA analysis, FISH and array CGH. RESULTS: Direct Sanger sequencing of the STS gene showed the same deletion of 13 base pairs within the exon 4 in all patients resulting in a premature stop codon. However, all patients' mothers were not carriers of this variant and no common haplotype flanking STS gene was shared between affected patients. Sequence alignment with reference human genome revealed an unprocessed pseudogene of the STS gene located on the Y chromosome, on which the 13 bp deletion was actually located. STS MLPA analysis identified a deletion of the entire STS gene on X chromosome for all affected patients. This deletion was confirmed by FISH and delineated by array CGH. CONCLUSION: All our patients shared a deletion of the entire STS gene revealed by MLPA, confirmed by FISH and improved by array CGH. Geneticists must be aware of the presence of pseudogenes that can lead to XLI genetic misdiagnosis.
Ichthyosis, X-Linked , Pseudogenes , Codon, Nonsense , Diagnostic Errors , Heterozygote , Humans , Ichthyosis, X-Linked/genetics , Male , Steryl-Sulfatase
An 81-year-old woman presented with a 2-month history of a painless nodule on the left foot that bled easily after minor trauma. She had no medical history and did not report any preexisting lesion. Physical examination revealed a 2 cm × 3 cm, exophytic and reddish-colored nodule, with an ulcerated and soft surface (Figure 1). There were no other skin lesions or abnormal physical findings. The diagnosis of a pyogenic granuloma (PG) was suggested. A biopsy specimen was obtained from the center of the lesion and stained with hematoxylin and eosin. Histopathologic examination revealed a marked proliferation of both capillary cells and spindle-shaped cells separated by slit-like vessels containing multiple erythrocytes (Figure 2A). Immunochemical analysis showed positivity for CD34 and human herpes virus (HHV)-8 in both endothelial and spindle cells (Figure 2B). Perls' staining showed abundant hemosiderin deposits in the tumor stroma (Figure 2C). These findings were consistent with the diagnosis of Kaposi sarcoma (KS). Laboratory tests eliminated a human immunodeficiency virus (HIV) infection, and no metastatic lesions were found on radiologic examinations. The lesion was treated with laser excision, with no recurrence at the 2-year follow-up.
Foot Diseases/pathology , Granuloma, Pyogenic/pathology , Sarcoma, Kaposi/pathology , Soft Tissue Neoplasms/pathology , Aged, 80 and over , Female , Foot Diseases/diagnosis , Granuloma, Pyogenic/diagnosis , Humans , Sarcoma, Kaposi/diagnosis , Soft Tissue Neoplasms/diagnosis
