Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.

SIGNIFICANCE STATEMENT: We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular adrenal hyperplasia, severe early-onset Cushing's syndrome, and distinct acral soft tissue overgrowth due to cutaneous mucinosis. This represents a novel manifestation of PRKACA disruption and broadens the extra-adrenal phenotype of PRKACA-associated Cushing's syndrome. Our data suggest that Cushing's syndrome phenotypes arising from somatic and germline PRKACA abnormalities can exist on a spectrum. We emphasise the value of ascertaining a genetic diagnosis for PRKACA-mediated adrenal and extra-adrenal disease to guide individualised and targeted care.

Reticular erythematous mucinosis: histopathological and immunohistochemical features of 25 patients compared with 25 cases of lupus erythematosus tumidus.

BACKGROUND AND OBJECTIVES: Reticular erythematous mucinosis (REM) and lupus erythematosus tumidus (LET) share similarities. However, to our knowledge no study extensively compared the histological features of these two conditions. The aim of this study is to compare the histological and immunohistochemical features of REM and LET. METHODS: We evaluated epidermal thickness, hyperkeratosis, dermo-epidermal junction changes, interstitial mucin deposition, vessel dilatation and pattern, type and density of the inflammatory infiltrate in 25 cases of REM and LET. Anti-CD3, anti-CD20, anti-CD68, anti-CD4, anti-CD8, anti-CD123, anti-CD2AP, anti-IgG and anti-C3 antibodies were tested in a subset of patients. RESULTS: Both diseases are characterized by perivascular dermal infiltrates of lymphocytes mainly CD4+ positive and increased dermal mucin. However, REM tended to show more scattered and more superficial lymphocytes with more superficial mucin and to have less frequent immunoglobulin and complement depositions along the dermo-epidermal junction. Plasmacytoid dendritic cells (PDCs) were less represented in REM, and were mainly found as single cells differently from LET. CONCLUSIONS: REM and LET present some differences in the infiltrate, including PDCs, the mucin deposition and the immunoreactant deposition at the dermo-epidermal junction that justify the distinction of the two diseases and suggest different pathogenetic mechanisms.

Paraneoplastic plaque-like cutaneous mucinosis: a case report.

Plaque-like cutaneous mucinosis (PCM) is a rare disorder of dermal mucin deposition. Some patients with PCM will be found to have an associated malignancy. We report the case of a 72-year-old man presenting with new onset pruritic, waxy-appearing erythematous and skin-colored papules and nodules coalescing into plaques on his shoulder, scalp, and forehead. Skin biopsy revealed cutaneous mucinosis. Despite conservative treatment, his skin lesions progressed, and he was found to have an occult malignancy of pancreatobiliary origin. After several months of chemotherapy, his skin lesions showed progressive improvement. To our knowledge, this is the third reported case of paraneoplastic PCM and the first reported to occur in association with underlying adenocarcinoma of pancreatobiliary origin. PCM may occasionally represent a paraneoplastic dermatosis. This case highlights the importance of a search for occult malignancy in such patients.

Cutaneous mucinosis in mixed connective tissue disease.

Cutaneous mucinosis is a group of conditions involving an accumulation of mucin or glycosaminoglycan in the skin and its annexes. It is described in some connective tissue diseases but never in association with mixed connective tissue disease. This report concerns two cases of cutaneous mucinosis in patients with mixed connective tissue disease in remission; one patient presented the papular form, and the other reticular erythematous mucinosis. These are the first cases of mucinosis described in mixed connective tissue disease. Both cases had skin lesions with no other clinical or laboratorial manifestations, with clinical response to azathioprine in one, and to an association of chloroquine and prednisone in the other.

Cutaneous mucinosis in mixed connective tissue disease* / Mucinose cutanea na doenca mista do tecido conjuntivo

Cutaneous mucinosis is a group of conditions involving an accumulation of mucin or glycosaminoglycan in the skin and its annexes. It is described in some connective tissue diseases but never in association with mixed connective tissue disease. This report concerns two cases of cutaneous mucinosis in patients with mixed connective tissue disease in remission; one patient presented the papular form, and the other reticular erythematous mucinosis. These are the first cases of mucinosis described in mixed connective tissue disease. Both cases had skin lesions with no other clinical or laboratorial manifestations, with clinical response to azathioprine in one, and to an association of chloroquine and prednisone in the other.

A mucinose cutânea é um grupo de condições em que há um acúmulo de mucina ou glicosaminoglicanos na pele e seus anexos. É descrita em algumas doenças do tecido conjuntivo, porem nunca em associação com doença mista do tecido conjuntivo. Relatamos dois casos de mucinose cutânea em pacientes com doença mista do tecido conjuntivo em remissão, um apresentava-se sob a forma papular e outro sob a forma reticular eritematosa de mucinose. Estes são os primeiros casos de mucinose descritos na doença mista do tecido conjuntivo. Ambos os casos apresentaram o quadro cutâneo de modo isolado, sem nenhuma outra manifestação clínico-laboratorial, havendo resposta à azatioprina em um e à cloroquina associada a prednisona no outro.

Nodular lesions of self-healing juvenile cutaneous mucinosis: a pitfall!

Self-healing juvenile cutaneous mucinosis (SHJCM) is a rare disorder of unknown origin, which occurs in children in good health. It is characterized by the multiplication of transient cutaneous papules and nodules, mainly located on the head and periarticular areas that spontaneously resolve. Histological features of SHJCM have been well described; therefore, the diagnosis is usually made easily when papules are biopsied. We report a series of 3 new cases of SHJCM presenting mainly with nodular lesions. Histological examination of these nodules showed either lesions consistent with nodular or proliferative fasciitis or nonspecific panniculitis. Mucinous deposits were present but often inconspicuous, so could be disregarded. We wanted to emphasize this misleading presentation because a biopsy for histological examination is always mandatory in cases of proliferating nodules to rule out malignant tumors. Therefore, the diagnosis always requires discussion between pathologists and clinicians to rapidly reassure the parents and avoid inappropriate therapy.

Oral focal mucinosis associated with cervical external root resorption: a case report.

BACKGROUND: Oral focal mucinosis (OFM) and cervical external root resorption are both rare lesions with an unknown etiology. In this article we report on a rare occurrence of OFM associated with cervical external root resorption. METHODS: A 44-year-old female patient presented with sharp pain while drinking cold beverages and a firm localized gingival overgrowth adjacent to the buccal aspect of tooth #19. An excisional biopsy of the gingival lesion was taken and a deep cavity was found in the buccal aspect of the root. The cavity was restored with an amalgam filling. RESULTS: The histological findings were of a well-circumscribed lesion composed of myxomatous connective tissue, which contained numerous stellate-shaped fibroblasts. Based on the findings, a diagnosis of OFM was made. CONCLUSION: A rare case of OFM and cervical external root resorption occurring in the same site was described. A possible link between these 2 phenomena was hypothesized.

Dermal mucinosis as a sign of venous insufficiency.

Dermal mucinoses are a heterogeneous group of disorders characterized by abnormal deposition of dermal mucin, an amorphous substance composed of hyaluronic acid and sulfated glycosaminoglycans. We describe two cases of dermal mucinosis in the setting of chronic venous insufficiency. Both patients presented with painful, edematous lower extremity plaques. Biopsies of all lesions showed striking dermal mucin deposition, a slight increase in small blood vessel density, slightly thickened vessel walls and no inflammation. Neither patient showed laboratory or clinical findings consistent with a secondary mucinosis such as thyroid dysfunction, lupus erythematosus, dermatomyositis, scleroderma, granuloma annulare, graft-vs.-host disease or mucin deposition post-ultraviolet or photochemotherapy treatment. Both patients were diagnosed with localized cutaneous mucinosis secondary to venous insufficiency. The clinicopathological features of this entity are described, and a pathogenic mechanism is proposed.

[Medullar cancer of the thyroid associated with dermal mucinosis]. / Mucinose dermique faciale associée à un cancer médullaire de la thyroïde sporadique métastatique.

INTRODUCTION: Dermal mucinosis can be associated with numerous pathologies, in particular involving the thyroid, but has never been described in the case of a medullar cancer of the thyroid (MCT). CASE-REPORT: A 69-year-old man consulted for a facial erythrosis, which had been developing for a few weeks without any identified triggering factor. The skin biopsy showed dermal mucinosis and tests revealed a sporadic medullar cancer of the thyroid with secondary bone, ganglion and medullar localizations. DISCUSSION: The association between medullar cancer of the thyroid and dermal mucinosis has never been described. Several hypotheses may explain this: the thyroid pathology itself, whatever its nature, the capacity of the MCT to synthesize mucin and the medullar metastatic overgrowth.

An unusual inguino-scrotal presentation of disseminated peritoneal adenomucinosis.

We report a rare case of disseminated peritoneal adenomucinosis presenting as an inguino-scrotal mass. Imaging studies showed the presence of a mass, with liquid content, expanding from right colon into the retrovesical space and downward into the right inguinal canal. Intraoperatively, we observed and removed an appendiceal gelatinous mass. The inguinal-scrotal mass consisted of a hernial sac filled with mucinous material. Histological examination allowed the diagnosis of peritoneal adenomucinosis.

[Strip papular mucinosis associated with systemic sclerosis]. / Mucinose en bandes et sclérodermie systémique.

INTRODUCTION: Other than discreet infra-clinical mucinous deposits observed during many inflammatory dermatoses, clinically visible dermal mucinosis can sometimes be associated with collagenosis. It is usually lupus and very rarely scleroderma. In this case, no confusion with papular mucinosis must be made. CASE REPORT: A 51 year-old woman presented with infiltrated erythematous lesions in strips on the inner sides of the thighs and legs, associated with myalgia, arthralgia and puffy fingers. Mixed connective tissue disease was the initial diagnosis. The clinical picture was rapidly completed by sclerodactylia, telangiectasia, a Raynaud's syndrome and esophageal involvement leading to the diagnosis of CREST-type systemic scleroderma. The biopsy of the erythematous strip lesions revealed a dermal mucinosis. Treatment with hydroxychloroquine led to the regression of the mucinous lesions and the stabilization of the scleroderma, which, four years later, had not developed further. DISCUSSION: Dermal mucinosis can accompany lupus erythematosus, in rare cases dermatomyositis and, in exceptional cases, scleroderma. The clinical presentation varies with large infiltrated plaques, reticulated or papulo-nodular lesions. Conversely, strip lesions such as those observed in our patient have never been reported till now. The association of a localized dermal mucinosis and a scleroderma must not lead to the erroneous diagnosis of papular mucinosis of clearly differing prognosis. The occurrence of a mucinosis during collagenosis might be related to enhanced synthesis of mucin by the fibroblasts mediated by the inflammatory cytokines, increased in this context.

Necrotizing eosinophilic folliculitis with mucinosis.

A 23-year-old woman presented with a 2-week history of an extensive facial eruption consisting of markedly crusted arciform plaques covered with a haemorrhagic eschar that commenced as pruritic follicular pustules. These were associated with facial oedema but no systemic symptoms or fever. Two skin biopsies revealed prominent tissue eosinophilia with eosinophilic folliculitis and areas of follicular mucinosis, as well as haemorrhagic scale crust over the surface. The clinical and histological findings may represent an example of a necrotizing variant of eosinophilic folliculitis that has recently been reported in atopic individuals. This patient, however, did not have evidence of atopy and appeared to have a florid form of Ofuji's disease that responded rapidly to indomethacin treatment.

A case of nodular cutaneous lupus mucinosis.

The patient was a 44-year-old female. She was diagnosed as having systemic lupus erythematosus at the age of 21 years and had been receiving systemic steroid treatment (5 mg prednisolone/day). Nodules began to appear on her neck, chest and back from June in 2000, and she was referred to our clinic for examination and treatment. Examination of a biopsy sample of an eruption on the neck revealed mucin deposition in the dermis. Based on the clinical and histopathological findings, she was diagnosed as having typical nodular cutaneous lupus mucinosis. The dose of steroid was increased, and the eruptions gradually disappeared.

Scleromyxedema (lichen myxedematosus) associated with dermatomyositis.

A 41-year-old white man is described with papules of the lower and upper back, the neck and the upper chest, a marked deposition of mucin in the upper reticular dermis, and an IgG lambda monoclonal gammopathy strongly evocative of scleromyxedema (lichen myxedematosus). Additionally, he developed intense myalgia, muscle weakness and rhabdomyolysis, which were associated with heliotrope erythema, photosensitivity and an erythematous rash of the dorsum of the hands with Gottron's papules. Muscle biopsy revealed an inflammatory myositis, and dermatomyositis was diagnosed. The association of dermatomyositis and secondary mucinosis, or muscle involvement in primary papular mucinosis are not rare. However, the association between scleromyxedema and dermatomyositis has only exceptionally been reported.

Lupus eritematoso sistemico asociado a mucinosis papulonodular / Lupus erythematosus systemic associated with a papulonodular mucinosis

Presentamos el caso de una paciente de raza negra, sexo femenino, oriunda de Brasil, de 43 años con Lupus Eritematoso Discoide localizado en cuero cabelludo, pabellón auricular y en paladar. En el curso de esta enfermedad agrega una mucinosis papuloonodular en tronco. Histológicamente las lesiones se caracterizan por depósito difuso de mucina en la dermis, con infiltrado inflamatorio característico de Lupus Eritematoso y sin cambios típicos en la epidermis. A los dos años, presentó cambios clínico-patológicos y de laboratorio con los cuales se diagnosticó un LES, acompañado de Mucinosis Papulonodular en tronco y miembros inferiores