[The cutaneous porphyrias]. / Porphyries cutanées.

The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphyria), bullous cutaneous porphyrias (porphyria cutanea tarda, porphyria variegata and hereditary coproporphyria), painful photosensitive acute cutaneous porphyrias (erythropoietic protoporphyria and X-linked dominant protoporphyria), and rare recessive porphyrias (congenital erythropoietic porphyria, Doss porphyria, hepatoerythropoietic porphyria and harderoporphyria). Treatment depends on the clinical expression of the disorder.

Perianal purpuric plaques revealing an amyloid light-chain amyloidosis: case report and review of the literature.

Systemic immunoglobulin light chain amyloidosis is the most common and severe type of amyloidosis. There is an abnormal fibrillary protein deposition in tissues that leads to progressive and irreversible organ dysfunction. The most commonly affected organs are kidney and heart. Although rare, cutaneous manifestations may be the first clinical sign of the disease and usually present as hemorrhagic lesions, such as purpura, petechiae, and ecchymosis. We present a 71-year-old man that presented to our department because of exuberant purpuric plaques in the anogenital area as the first manifestation of an amyloid light-chain (AL) amyloidosis. The multi-organ involvement in addition to rapid clinical deterioration precipitated the patient's death four months later.

Metastatic calcinosis cutis in a patient with Hodgkin's lymphoma.

Calcinosis cutis results from the deposition of insoluble calcium salts in the skin and subcutaneous tissue. Herein, we report a case of extensive metastatic calcinosis cutis in an 18-year-old woman with stage IV Hodgkin lymphoma with skeletal involvement. With combination therapy including radiation directed at her lymphoma and diltiazem, her lesions improved dramatically. This case demonstrates the previously unreported association between calcinosis cutis and Hodgkin lymphoma.

Lactants amb augment de pigmentació periunguial / No disponible

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Cutaneous manifestations of internal diseases.

One of the best-recognized cutaneous manifestations of internal disease includes the skin changes seen in endocrine diseases. Cutaneous manifestations of internal disease can also be seen with certain neoplastic processes. Metabolic disturbances in zinc, lipid metabolism, or increased amino acid catabolism can result in zinc-responsive dermatosis, cutaneous xanthomas, and superficial necrolytic dermatitis, respectively. Certain infectious diseases can result in skin lesions that may provide visual clues but also critical diagnostic information if the skin is biopsied and cultured. Recognizing those skin changes that are clinical markers for internal disease can expedite the diagnosis and timely management of several systemic diseases.

[Cutaneous calciphylaxis]. / Kutane Kalziphylaxie.

Calciphylaxis represents a dermatological emergency with a mortality of up to 80%. The disease is characterized by a triad of arteriolar medial calcification, thrombotic cutaneous ischemia and necrotic ulcerations. Recently several mechanisms of vascular calcification have been identified. This may led to preventive measures in the future. Early diagnosis is important to avoid complications such as sepsis. The dermatologist plays an important role in early diagnosis based on the recognition of clinical presentation and histopathology. Patients with end-stage renal disease are most commonly affected by calciphylaxis. The most frequent non-uremic predisposing conditions are primary hyperparathyroidism, malignancies, alcohol-induced liver disease, and autoimmune connective tissue diseases. Medical treatment aims to normalize mineral metabolism to reduce the serum concentration of sodium phosphate and thus to prevent precipitation and calcification. Newer compounds are bisphosphonates, non-sodium/non-aluminium phosphate binders, cinacalcet, paricalcitrol, and sodium thiosulfate. Among the surgical procedures parathyroidectomy did not result in a significant survival benefit. An aggressive surgical debridement of necrotic ulcerations, on the other hand, improved survival. Early diagnosis and a multidisciplinary treatment approach including re-vascularization by the vascular surgeon, repeated surgical debridement and split skin transplantation support wound healing and insure limb conservation.

Cutaneous amyloidoses and systemic amyloidoses with cutaneous involvement.

Extracellular deposition of altered autologous protein (amyloid protein) within the dermis is the hallmark of cutaneous amyloidoses and systemic amyloidoses with cutaneous involvement. Amyloidoses may be acquired or hereditary in nature and subclassification differentiates between primary amyloidosis (no obvious predisposing disease) and secondary amyloidosis (specific underlying disease). More than 26 different proteins and peptides have been identified as amyloid precursors and these proteins are used to subclassify this heterogeneous group of diseases. The amyloid proteins show an anti-parallel beta-sheet conformation and form non-branching linear filaments of variable lengths and diameters of approximately 7.5 to 10 nm. However, the exact etiopathogenesis of amyloid formation still remains unclear. Depending on histoanatomical distribution and amount, amyloid may cause progressive and life-threatening organ dysfunction. Clinical presentation, histology, electron microscopy, and biochemical-immunological differentiation represent decisive tools for an accurate diagnosis.

Oto-Rhino-Laryngology (ORL) tumor presentation in a case of systemic AA amyloidosis.

A 64-year-old male with no underlying disease presented with the development of multiple skin nodules, loss of sensation in the extremities, hoarseness, macroglossia, and pain in the oral cavity. Direct laryngoscopy showed nodules involving the oral cavity, oropharynx, supraglottic region, and vocal cords. Biopsy from skin nodules showed amyloid deposits staining with Congo red. Immunohistochemical staining was used for AA protein and was positive. Biopsy from the oral floor was also positive for amyloid. Oto-Rhino-Laryngology (ORL) involvement has been reported in approximately 40 percent of AL amyloidosis patients, but does not appear to be frequent in AA amyloidosis. Cutaneous manifestations in AA amyloidosis are rare, although cases with lesions presenting as purpura are reported occasionally; we are not aware of other cases of ORL nodular involvement in systemic AA.

Puzzles in practice. Diabetic dermopathy.

A 63-year-old white man is seen for a routine examination. His medical history is significant for type 2 diabetes mellitus of 16 years duration, diabetic peripheral sensory neuropathy, hypertension, and hyperlipidemia. He smoked 1 pack of cigarettes daily for 20 years but quit many years ago. Salient findings on physical examination include decreased light touch and vibratory sense in the feet, decreased pedal pulses, and hyperpigmented patches on the lower legs. The patches have normal sensation and a hint of atrophy. There is no overlying scale. What is your diagnosis?