Ursula Sass

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.

Multinucleate cell angiohistiocytoma: Report of two cases with no evidence of human herpesvirus-8 infection

Multinucleate cell angiohistiocytoma (MCA) is a vascular tumor of unknown pathogenesis. Possible misinterpretation of this disorder with Kaposis sarcoma (KS), a human herpesvirus‐8 (HHV‐8)‐associated tumor, prompted us to look for this virus in two women with MCA. None of the multiple skin specimens obtained from both our patients produced amplified HHV‐8 DNA. Using a cell culture methodology similar to that used for KS, we established cell cultures from MCA lesions. While KS spindle cells are known to exhibit in vitro invasive properties and can be grown up to more than 20 passages, the MCA‐derived cells were short‐lived and were not able to traverse basement membranes. Taken together, our data support the hypothesis that MCA is not a neoplasm but a benign vascular proliferation which is clearly distinguishable from KS.

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.

Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus

We report a 2‐year‐old girl with developmental delay who, from the age of 1 year, developed perniotic lesions of the hands and feet initially diagnosed as chilblain lupus. Histological examination showed features of epidermal necrosis with intraepidermal bulla formation, interface dermatitis, lymphocytic vasculitis with fibrinoid necrosis and thrombi formation, both superficial and deep dermal lymphocytic infiltrate, lymphocytic eccrine hidradenitis and absence of marked dermal edema. Subsequent investigations suggested a clinical diagnosis of Aicardi–Goutières syndrome (AGS), a rare genetic leukoencephalopathy. Recently, both AGS and familial chilblain lupus, an autosomal dominant form of systemic lupus erythematosus (SLE), have been shown to be allelic thus suggesting a common pathogenic basis. In addition, a phenotypic overlap is apparent between SLE and AGS. To our knowledge, this is the first comprehensive dermatopathological report of the cutaneous lesions seen in AGS, and our paper highlights the importance of considering AGS in the differential diagnosis of perniosis and chilblain lupus.

Eosinophilic pustular folliculitis in three atopic children with hypersensitivity to Dermatophagoides pteronyssinus

Three children will be described who present recurrent episodes of pruritic papulopustular follicular lesions on the face, the extremities and the trunk. The episodes lasted for 1-3 months with intermittent remission. Each flare was accompanied by hypereosinophilia and an increased total IgE titer. RAST and prick tests were positive for Dermatophagoides pteronyssinus (DPT). Laboratory tests disclosed no infectious or parasitic etiology. Histological examination showed eosinophilic pustular folliculitis (EPF) in each of the 3 cases. The lesions responded well to topical corticosteroids. The aim of this article is to underline the importance of hypersensitivity reactions (in these particular cases to DPT) in the pathogenesis of EPF.

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

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.

Chronic arsenicism : criminal poisoning or drug-intoxication ? Report of two cases

We report two cases with chronic arsenicism. The first one is a young 37-year-old woman who presents leucomelanoderma, plantar keratoderma, polyneuropathy of the legs and transversal striae of the nails. After investigations, criminal intoxication with arsenic caused by her own sister was discovered. The second case is a 42-year-old man who had developed plantar keratoderma, arsenical keratoses and two squamous cell epitheliomas 10 years after a 2-year treatment with Fowlers solution for androgenetic alopecia.

A sporadic case of progressive mucinous histiocytosis

Hereditary progressive mucinous histiocytosis is a rare autosomal dominant non‐Langerhans cell histiocytosis. We describe a sporadic case of this syndrome in a 64‐year‐old woman who had multiple dark‐red dome‐shaped papulonodules located mainly on the back of her hands, forearms and thighs. Light microscopy revealed a circumscribed upper dermal aggregate of ovoid or spindle‐shaped histiocytes with abundant mucin deposition. Iron deposits and numerous mast cells were scattered throughout the tumour but giant cells were rare. Electron microscopy revealed a high number of zebra bodies and myeloid bodies in the cytoplasm of the histiocytes. Immunohistochemistry showed positive labelling with alpha‐1 antitrypsin, Factor XIIIa and CD68, while CD1a, CD34 and S100 protein were negative. The differential diagnosis of histiocytic syndromes is discussed.

Eruptive tumors of the follicular infundibulum presenting as hypopigmented macules on the buttocks of two Black African males

We report two cases of eruptive tumors of the follicular infundibulum (TFI) with an unusual clinical presentation which has not been described previously in literature. In both cases, the appearance was strikingly similar, consisting of multiple asymptomatic hypopigmented macules on the buttocks of two Black African males, aged 38 and 55 years old. In both cases, the eruption had evolved over several months. The individual lesions were of similar size, approximately 1 cm, with irregular and ill‐defined borders. Histopathological examination revealed a superficial and horizontal plate‐like proliferation of keratinocytes emanating from the epidermis with multiple slender attachments. Pale keratinocytes were present within the epithelial plates. A Fontana stain showed a loss of melanin pigment from the epithelial plates. Orcein (elastic) stain highlighted an increase of the number of the elastic fibers surrounding the tumor. On the basis of these findings, a diagnosis of eruptive TFI was established for both cases. Among the various presentations of TFI, only the eruptive variant appears to be clinically distinctive, with asymptomatic hypopigmented macules usually located on the face, neck and upper trunk. Eruptive TFI should also be added to the clinical differential diagnosis of multiple hypopigmented macules on the buttocks of Black patients.