Cutaneous and neurologic manifestations of biotinidase deficiency

A male newborn with no obstetric or familial antecedents, except that his parents were cousins, developed hypotonia, lethargy, and feeding problems from birth. Analysis revealed a marked metabolic acidosis and hyperammonemia. Three weeks later, he was admitted to hospital in order to receive parenteral nutrition and to undertake a study for metabolic diseases. The boy did not improve in spite of the use of parenteral nutrition and began to present with inspiratory stridor and tachypnea. One week later, he presented with an erythematous scaling eruption, which was especially intense in the lumbosacral region ( Fig. 1a,b ).The scalp was only slightly affected.

Figure 1 Open in figure viewer PowerPoint Erythematous scaling eruption, more intense in the lumbosacral region     

Cutaneous manifestations of endocrine-metabolic disease and nutritional deficiency in the elderly

This article explores cutaneous manifestations of endocrine-metabolic disease and nutritional deficiency in the elderly. Topics covered include the following: diabetes mellitus, thyroid disorders, adrenal dysfunction, pituitary disorders, parathyroid disease, nutritional deficiencies, menopause, and HIV.     

Cutaneous manifestations

Characteristic and pathognomonic skin lesions in flexural sites are the hallmark of hereditary PXE. Because existence of these lesions was taken as the single essential diagnostic criterion for hereditary PXE, all of the patients in the present group had such lesions to one degree or another. Without typical lesions in flexural sites, the diagnosis remains in question, although very early or subclinical histologic expressions in normal-appearing flexural skin may rarely occur and present confounding diagnostic dilemmas.PXE skin lesions usually appear during childhood or adolescence and progress slowly with age and duration of disease, normally beginning on the lateral neck and later involving the flexural sites of the trunk and lower extremities. The disorder progresses at vastly different rates for unknown reasons. Rare, late-onset skin lesions, as late as the fifth decade of life, are of immense theoretical interest and may represent a unique new subset of PXE.In patients with the most extensive skin involvement of long duration, the skin gradually loses its original pebbly, leathery look and becomes thickened with heavy, redundant, sagging folds. The neck, axillae, and groins are particularly susceptible. Similar involvement of the face may occur; however, the admixture with solar elastosis often makes it difficult to tell which of the two processes accounts for most of the clinical change.Mucosal lesions are common, most often occurring in the buccal mucosa and occasionally involving the anogenital mucosa in those with the most extensive skin lesions.Various, unusual, and uncommon skin lesions may occur, including examples of transepiderma1 elimination, called perforating PXE, that resemble EPS but differ from it in that the material extruded in perforating PXE is calcified, which is not the case in ordinary EPS. Acneiform lesions and depressed, scarred, “burned out” flexural areas have been described.     

Cutaneous manifestations in brucellosis

Brucellosis is a common worldwide zoonotic disease. Cutaneous manifestations are not specific and affect 1-14% of patients with brucellosis. Here, we describe 49-year-old female with fever and a diffuse maculopapular rash due to Brucella melitensis infection. Histopathology of skin biopsy revealed leukocytoclastic vasculitis; positive blood cultures for B. melitensis established the diagnosis of brucellosis. We provide a review of the relevant literature.     

Cutaneous myofibroma--late manifestations

Infantile myofibromatosis is a rare, but nevertheless well-known, entity that was first described in 1954 in Stout's classic article on juvenile fibromatosis. Usually the tumour mass is noted at birth or during the first weeks of life. Solitary lesions are at least twice as common as multiple lesions. A case of a 17-year-old woman with a tumour macroscopically resembling a basal cell epithelioma is presented. This tumour did not develop until the patient was 17 years old and cannot be distinguished histologically from an infantile myofibroma. Because of the very late appearance of this tumour the term "cutaneous myofibroma" is proposed for it. In young patients with a basal cell epithelioma-like lesion the diagnosis of cutaneous myofibroma has to be considered.     

Acquired zinc deficiency in alcoholic liver cirrhosis: report of two cases

Acquired zinc deficiency in two patients suffering from alcoholic liver cirrhosis is reported. Skin changes included bullae and erosions on the heels, desquamating dermatitis on feet, hands and shins, and localized alopecia. Following oral zinc therapy the skin changes disappeared and Beau lines were later seen on the finger nails. Concomitantly with the rise in the depressed plasma zinc levels, serum alkaline phosphatase and prothrombin levels rose and serum bilirubin decreased. The observations are in agreement with earlier reports dealing with congenital and conditioned zinc deficiency and oral zinc therapy in alcoholic liver cirrhosis.     

Cutaneous manifestations of dysproteinemias

A number of cutaneous lesions may represent signs of underlying dysproteinemia. The lesions may result from direct infiltration by plasmacytes and immunoblasts--such as plasmacytomas seen with multiple myeloma--or they may result from indirect effects of the immunoglobulins by a number of different mechanisms. Because the spectrum of cutaneous lesions is so large and at times nonspecific, it is important to keep dysproteinemia in one's differential diagnosis at all times. Careful monitoring of these patients is important since the latency period for the actual development of a plasma cell malignancy may be years.     

Cutaneous manifestations of bartonellosis

Bartonellosis are diseases caused by any kind of Bartonella species. The infection manifests as asymptomatic bacteremia to potentially fatal disorders. Many species are pathogenic to humans, but three are responsible for most clinical symptoms: Bartonella bacilliformis, Bartonella quintana, and Bartonella henselae. Peruvian wart, caused by B. bacilliformis, may be indistinguishable from bacillary angiomatosis caused by the other two species. Other cutaneous manifestations include maculo-papular rash in trench fever, papules or nodules in cat scratch disease, and vasculitis (often associated with endocarditis). In addition, febrile morbilliform rash, purpura, urticaria, erythema nodosum, erythema multiforme, erythema marginatus, granuloma annularis, leukocytoclastic vasculitis, granulomatous reactions, and angioproliferative reactions may occur. Considering the broad spectrum of infection and the potential complications associated with Bartonella spp., the infection should be considered by physicians more frequently among the differential diagnoses of idiopathic conditions. Health professionals and researchers often neglected this diseases.     

Cutaneous manifestations of tuberculosis

Cutaneous involvement is a rare manifestation of tuberculosis (TB). The correct diagnosis is often significantly delayed because cutaneous TB is not routinely considered in the differential diagnosis or because investigations fail to reveal the presence of Mycobacterium tuberculosis. The clinical features of cutaneous TB are diverse, and result from exogenous and endogenous spread of M. tuberculosis and from immune-mediated mechanisms. The recognition of cutaneous TB is important, as the diagnosis is frequently overlooked resulting in delayed treatment.     

Cutaneous manifestations of fucosidosis

Angiokeratoma corporis diffusum (ACD) is still often thought to be synonymous with AndersonFabry disease, a deficiency of alpha-galactosidase. It is important, however, to consider other possible enzyme deficiencies in patients with ACD. We report an 8-year-old boy with ncurodevelopmental delay who was diagnosed as having fucosidosis following recognition of ACD in the dermatology department. Other cutaneous features in this patienl included distal transverse purple nail bands, acrocyanosis and a naevus anaemicus. Histology and electron microscopy of skin papules was consistent with angiokeratoma. Skeletal survey demonstrated dysostosis multiplex, The diagnosis was confirmed by leucocyte oligosaccharide enzyme analysis. There are only three previous reports of fucosidosis in the U.K.     

Cutaneous manifestations of strongyloidiasis

Strongyloides stercoralis is a small intestinal nematode that has the ability to multiply within the human host. Because of the potential opportunistic behavior of this parasite, immunocompromised patients may develop fatal disseminated infections. Chronic strongyloidiasis may last decades and give rise to various dermatologic lesions, the most characteristic of which is larva currens, a serpiginous creeping urticarial eruption caused by the intradermal migration of the infective filariform larvae. Rarely recognized is the presence of widespread petechiae and purpura that may develop in patients with disseminated infections. A 64-year-old immunosuppressed man developed fatal extraintestinal S stercoralis infection with extensive purpura associated with massive invasion of the skin by migrating larvae.     

Cutaneous manifestations of osteoectasia

A 14-year-old boy with osteoectasia (juvenile Paget disease) had the skin changes of pseudoxanthoma elasticum (PXE), Histological appearances were atypical in that the elastin was not calcified. Acanthosis nigricans was present in the axillae and on the neck. The histological changes were unambiguous. The association of acanthosis nigricans and osteoectasia has not previously been reported.     

Cutaneous manifestations in systemic trichosporonosis

Trichosporonosis due to Trichosporon beigelii is increasingly recognized in neutropenic immunocompromised patients. We report the clinical and histological presentation of three cases, as well as a study of the prevalence of T. beigelii colonization of normal-looking skin in patients receiving intensive chemotherapy for cancer.     

类风湿关节炎的皮肤表现

类风湿关节炎可具有特异性和非特异性皮肤病变,包括类风湿结节,速发类风湿结节病、类风湿结节病、类风湿血管炎、Felty综合征、坏疽性脓皮病、关节炎间质的肉芽肿皮炎、栅栏状中性粒细胞肉芽肿皮炎、类风湿中性粒细胞皮炎。