Anne Theunis

Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement

A female newborn presented with a congenital urticarial rash that consisted of fluctuating well‐demarcated pink or pale reddish macules or slightly raised papules and plaques. In addition, purulent cerebrospinal fluid was present in the absence of evidence of congenital infection. Skin biopsy revealed a sparse infiltrate throughout the entire dermis, including the eccrine adventitia. The infiltrate was composed mostly of neutrophils, but rarely lymphocytes and eosinophils could also be seen. No vasculitis was present. Because of the presenting attributes, a diagnosis of cryopyrin‐associated periodic syndrome (CAPS) was considered and the neonatal‐onset multisystem inflammatory disorder (NOMID) that represents the most severe expression of the CAPS clinical spectrum was favored. Diagnosis was confirmed by identification of a mutation in the cold‐induced autoinflammatory syndrome‐1 gene and by an observed response to treatment with the interleukin‐1 receptor antagonist anakinra. Both the clinical and histopathological findings of the presented case may represent a distinct entity within the spectrum of aseptic neutrophilic dermatitis. We refer to this spectrum as neutrophilic urticarial dermatosis (NUD), which may serve as a cutaneous marker of autoinflammation. NUD with perieccrine involvement should prompt consideration of CAPS, especially NOMID, in the context of neonatal multisystem disease.

Superficial acral fibromyxoma : clinical and pathological features

Superficial acral fibromyxoma (SAFM) is a recently recognized myxoid tumor that usually occurs on the fingers and toes of middle-aged adults. We report on the typical case of a 50-year-old woman with a SAFM in the right big toenail that had been slowly growing for more than 10 years. To our knowledge, this case is the first reported case for which clinical pictures are available. Histologically, the lesion was non-encapsulated and was composed of stellate and spindle cells, arranged in a myxoid matrix. No atypia or mitotic figures were found. Neoplastic cells showed positive staining for CD34 and negative staining for epithelial membrane antigen (EMA), actin, desmin, keratins, S100 protein, CD99, and HMB45. Differential diagnosis encompasses benign and malignant myxoid and spindle cells tumors such as myxoid neurofibroma, sclerosing perineurioma, superficial angiomyxoma, and several low-grade myxoid sarcomas.

A retrospective study of squamous cell carcinoma of the nail unit diagnosed in a Belgian general hospital over a 15-year period

BACKGROUND Squamous cell carcinoma (SCC) is the most common malignant tumor at the nail unit. It mainly affects middle-aged men, with a peak incidence between 50 and 69 years of age. Diagnosis is often delayed because of the slow evolution of the lesion and multiple clinical features. OBJECTIVE We sought to characterize the different clinical and histopathological patterns of SCC of the nail unit and evaluate their therapeutic outcome. METHODS Records for 58 patients were retrieved from our departments dermatopathology database over a period of 15 years (1995-2011) and the patients recontacted. RESULTS Of the 58 patients, 51 were eligible for follow-up. There was a male predominance (72.5%). The fingers were most commonly affected (98%), the right index and long fingers being most commonly affected (20.8% each). The nail bed was mainly affected. The commonest clinical signs were, in decreasing order, subungual hyperkeratosis, onycholysis, oozing, and nail plate destruction. The majority of SCC of the nail unit was in situ (63%). The recurrence rate of all treatments taken together was 30.6%. LIMITATIONS Retrospective study design is a limitation. CONCLUSIONS SCC of the nail unit mostly affects men aged 50 to 69 years. Most cases were the warty type, with oozing being an underrecognized clinical sign. Contrary to prior studies, most lesions were in situ, and bone involvement was uncommon. Conservative surgical resection should be the first-line treatment when the bone is not involved. Recurrence rate is high when a procedure other than Mohs micrographic surgery is performed.

Clear cell 'sugar' tumor (PEComa) of the skin: A case report

Abstract:  The so‐called perivascular epithelioid cell neoplasm (PEComa) family includes angiomyolipoma, clear cell ‘sugar’ tumor (CCST), lymphangioleiomyomatosis, and clear cell myomelanocytic tumor (CCMMT). These rare tumors are characterized by the co‐expression of melanocytic and muscle markers. They have been recognized in an increasing number of sites but currently only one case of PEComa, of the CCMMT subtype, has been reported in the skin in abstract form.

Immunohistochemical study of 40 cases of longitudinal melanonychia.

The etiology of longitudinal melanonychia (LM) is difficult to establish by clinical and dermoscopic examinations alone. Microscopic examination of the nail matrix remains crucial. Two groups of LM may be identified: melanocytic activation (melanic pigmentation of the matrix epithelium without any increase in the density of melanocytes) and melanocytic proliferation (lentigo, nevus, or melanoma). The histological examination is challenging, and immunohistochemical investigations can be helpful. The objective of this study was to analyze the immunohistochemical findings with routinely used markers in melanocytic tumors-S-100 protein, HMB-45, and Melan-A-in LM. A series of 40 cases were analyzed: 10 activations, 4 lentigines, 7 nevi, 12 in situ melanomas, and 7 invasive melanomas. The sensitivity of S-100 protein is weak in benign and malignant intraepithelial melanocytes of the nail matrix, and if this marker is performed alone, it may be wrongly reassuring. However, the use of S-100 protein is essential to differentiate invasive melanoma, lacking an intraepithelial component, and particularly desmoplastic melanoma, from epithelial and mesenchymal tumors. HMB-45 and Melan-A are more sensitive than S-100 protein for the evaluation of intraepithelial melanocytic proliferation of the nail apparatus, with HMB-45 being the most intense marker. In the dermal component, HMB-45 and Melan-A were less sensitive than S-100 protein. In conclusion, we recommend that the panel of antibodies used for histological evaluation of LM should include HMB-45 and/or Melan-A and S-100 protein only if an invasive melanoma is suspected.

Unusual T Cell Pseudolymphoma with Features of So-Called Pseudolymphomatous Folliculitis

Unusual T Cell Pseudolymphoma with Features of So-Called Pseudolymphomatous Folliculitis J.L. Dargent a, J. Deboisb, U. Sass c, A. Theunis c, J. André c, T. Simonartd aDepartment of Pathology, CHU Saint-Pierre/ULB-Institut Jules-Bordet, Brussels, b Huidziekten, Mechelen, cDermatopathology Unit, Department of Dermatology, CHU Saint-Pierre, and dDepartment of Dermatology, Hôpital Erasme, Brussels, Belgium

Tangential excision of pigmented nail matrix lesions responsible for longitudinal melanonychia: evaluation of the technique on a series of 30 patients.

OBJECTIVES We sought to assess the shave biopsy technique, which is a new surgical procedure for complete removal of longitudinal melanonychia. We evaluated the quality of the specimen submitted for pathological examination, assessed the postoperative outcome, and ascertained its indication between the other types of matrix biopsies. DESIGN This was a retrospective study performed at the dermatologic departments of the Universities of Liège and Brussels, Belgium, of 30 patients with longitudinal or total melanonychia. RESULTS Pathological diagnosis was made in all cases; 23 patients were followed up during a period of 6 to 40 months. Seventeen patients had no postoperative nail plate dystrophy (74%) but 16 patients had recurrence of pigmentation (70%). LIMITATIONS This was a retrospective study. CONCLUSIONS Shave biopsy is an effective technique for dealing with nail matrix lesions that cause longitudinal melanonychia over 4 mm wide. Recurrence of pigmentation is the main drawback of the procedure.

Evaluation of the role of genital human papillomavirus in the pathogenesis of ungual squamous cell carcinoma

Human papillomaviruses (HPV), and particulary HPV 16, have been associated with ungual squamous cell carcinoma (USCC). But their role in tumor development remains unclear. In genital carcinoma, where the oncogenic role of HPV is well established, integration of HPV DNA into the host cell genome seems to be important for malignant transformation. To clarify the issue, we have studied the physical state of HPV 16 in 3 cases of in situ USCC by the polymerase chain reaction and by in situ hybridization. HPV DNA was integrated into the human genome in 2 cases and episomal in 1 case. This particular physical state of HPV 16 in USCC, similar to those encountered in anogenital SCC, confirms the probable role of this kind of virus in the pathogenesis of USCC.

POEMS Syndrome Revealed by Multiple Glomeruloid Angiomas

POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin disorders) is a rare multisystemic disease associated with plasma cell dyscrasia. A 68-year-old woman with chronic renal insufficiency and arterial hypertension included in her medical history was admitted to the hospital with confusion, somnolence and asthenia. She presented ascites, hepatosplenomegaly, leg oedema, distal dysesthesias, leuconychia and multiple nodular purple red angiomas on the trunk, upper limbs and fingers. Hypothyroidism was revealed in the laboratory investigations and monoclonal IgG peak in immunoelectrophoresis. Electromyography showed both demyelinisating and axonal degenerative neuropathy. The diagnosis of POEMS syndrome was based on the dermatopathological examination of a cutaneous angioma; histology revealed features of glomeruloid angioma, a specific marker of this syndrome.

Management of in situ melanoma of the nail apparatus with functional surgery: report of 11 cases and review of the literature

Nail apparatus melanoma (NAM) is a rare melanocytic neoplasm with pejorative prognosis often related to late diagnosis. Early diagnosis at in situ stage (NAMis) is difficult, but essential to improve prognosis. NAMis management is not well established yet. Removal of the whole nail unit has been advocated in several small series as a potential treatment for NAMis.