Subject(s)
Xanthogranuloma, Juvenile , Xanthomatosis , Humans , Infant , Xanthogranuloma, Juvenile/diagnosis , Skin , Xanthomatosis/diagnosisABSTRACT
Knuckle pads are benign painless papules and nodules that most commonly appear on the extensor surfaces of the proximal interphalangeal joints. Knuckle pads are frequently misdiagnosed due to their location overlying joints, which can lead to costly interventions and patient discomfort for a relatively harmless condition. We describe a 44-year-old woman who presented with mildly painful nodules on multiple bilateral proximal interphalangeal joints. The patient did not have a family history of fibromatosis and the rheumatoid factor was negative. Histology showed mild epidermal hyperkeratosis, papillomatosis, and acanthosis with a deep dermal, poorly circumscribed, proliferative nodule made of spindled myofibroblasts without cytological atypia. The diagnosis of knuckle pads was established based on the clinical and morphological presentation of the nodules. Treatment with intralesional triamcinolone acetonide injection produced significant clinical improvement. Our findings highlight the challenging diagnosis of knuckle pads and the importance of increasing the familiarity of knuckle pads in modern medical practice.
Subject(s)
Fibroma/diagnosis , Finger Joint/pathology , Hand Dermatoses/diagnosis , Keratosis/diagnosis , Adult , Diagnosis, Differential , Diagnostic Errors , Female , Fibroma/pathology , Hand Dermatoses/pathology , Humans , Keratosis/pathology , Papilloma/diagnosisABSTRACT
Nail apparatus melanomas are rare and may present with a wide variety of clinical presentations. In particular, the amelanotic subtype can pose a diagnostic challenge, often leading to a poor prognosis related to a delayed diagnosis. We report a 69-year-old man with an unusual subungual amelanotic melanoma presenting as a persistent single nail dystrophy that was repeatedly treated as onychomycosis. Owing to the delayed diagnosis of the melanoma and to minimize recurrence risk, the patient underwent a partial amputation of his left thumb.
Subject(s)
Melanoma, Amelanotic/pathology , Nail Diseases/pathology , Nails/pathology , Onychomycosis/diagnosis , Skin Neoplasms/pathology , Aged , Biopsy , Diagnosis, Differential , Humans , Male , ThumbSubject(s)
Collagen/metabolism , Lower Extremity/pathology , Skin Diseases, Vascular/pathology , Telangiectasis/pathology , Aged, 80 and over , Biopsy, Needle , Female , Follow-Up Studies , Humans , Immunohistochemistry , Rare Diseases , Severity of Illness Index , Skin Diseases, Vascular/diagnosis , Telangiectasis/diagnosisABSTRACT
AIMS: B-cell chronic lymphocytic leukemia (CLL) is a heterogeneous malignancy that clinically ranges from indolent to rapidly progressive. CLL, like other cancers, can be affected by epigenetic alterations. MATERIALS & METHODS: A microarray discovery-based study was initiated to determine DNA methylation in CLL cases with a range of CD38 expression (192%). RESULTS: Many loci were either methylated or unmethylated across all CD38 levels, but differential methylation was also observed for some genes. Genomic sequencing of DLEU7 confirmed extensive cytosine methylation preferentially in patient samples with low CD38 expression, whereas NRP2, SFRP2 and ADAM12 were more commonly methylated in those with high CD38 expression. CONCLUSION: This study demonstrates that CLL is affected by CpG island methylation in some genes that segregate with CD38 expression levels, while most others show similar methylation patterns across all levels. The CpG island methylation in certain functional gene groups and pathway-associated genes that are known to be deregulated in CLL provides additional insights into the CLL methylome and epigenetic contribution to cellular dysfunction. It will now be useful to investigate the effectiveness of epigenetic therapeutic reversal of these alterations to develop effective treatments for the disease.
