Extensive calcinosis cutis with systemic lupus erythematosus

Calcinosis cutis is a common clinical feature of dermatomyositis and scleroderma but is only rarely reported in association with systemic lupus erythematosus (SLE). We describe three patients with long-standing systemic lupus erythematosus in whom extensive calcinosis cutis developed. We identify characteristics our patients share in common with 23 previously described patients.     

Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism

Albright hereditary osteodystrophy (AHO) is a syndrome caused by inactivating mutations in the GNAS (guanine nucleotide-binding protein, alpha-stimulating) gene. Patients with AHO have short stature, obesity, brachydactyly and subcutaneous calcifications. AHO can be associated with pseudohypoparathyroidism type IA (PHP-IA) with upregulation of parathyroid hormone, whereas in pseudo-pseudohypoparathyroidism (PPHP), an endocrinopathy is not present. We report the case of a 5-month-old male infant who presented with slowly progressive linear atrophic skin lesions. The histological findings showed evidence of dermal hypoplasia. The child's father had PHP-IA. Four months after presentation, the infant developed calcifications within the pre-existent atrophic lesions. No alterations in calcium metabolism were noted. Analysis of the GNAS gene identified a short duplication leading to a frameshift mutation. We conclude that linear atrophic skin lesions may be an early sign of imminent cutaneous calcifications in AHO.     

Diffuse soft tissue calcifications (calcinosis cutis) in a patient with discoid lupus erythematosus

Soft tissue calcification is known to occur in dermatomyositis, systemic scleroderma and CREST syndrome, but rarely in systemic lupus erythematosus (SLE). Diffuse soft tissue calcifications have not been reported in discoid lupus erythematosus (DLE). In a patient with discoid lupus erythematosus, calcinosis cutis developed about 20 years after the onset of the disease. During the follow-up time of 25 years, manifestations suggestive of a systemic disease were observed in our patient. However, no specific diagnosis could be established. The clinical, light and electron microscopic as well as immunohistochemical findings of our patient are reported. On the basis of electron microscopic findings it is suggested that intracellular calcification occurred in this case.     

Disseminated linear calcinosis cutis associated with the Koebner phenomenon in an infant with congenital acute monocytic leukaemia

We present a unique case of an infant with acute monocytic leukaemia who presented at birth with multiple rubbery, erythematous to violaceous subcutaneous nodules secondary to leukaemia cutis. As these infiltrates regressed with chemotherapy, numerous white to yellow linear confluent papules appeared in a scratch-like pattern. These lesions were widely disseminated but were concentrated across her face, trunk and extremities with relative sparing of the napkin area and back. We propose that these lesions represent a form of dystrophic calcinosis cutis that occurred secondary to koebnerization in an infant with congenital leukaemia cutis.     

Calcinosis cutis: cutaneous manifestations of generalized calcinosis in renal hyperparathyroidism

In 2 female patients suffering from chronic renal insufficiency and secondary hyperparathyroidism total parathyroidectomy with autotransplantation was performed, but shortly afterwards tertiary hyperparathyroidism developed. Together with numerous generalized metastatic foci of severe smooth tissue calcification, extensive calcification of the skin occurred. Some of the hard painful areas with papules, nodules and large plaques of calcium deposits were inflamed and ulcerated, and the histological picture was that of severe disseminated calcification of the middle and deep reticular dermis, spreading over into the subcutaneous adipose tissue. Conventional X-ray examinations and computer tomography revealed large asymmetrical areas of bone-dense calcification of the soft tissue. After total excision of the autografts the severe calcifications of the skin diminished or disappeared completely.     

Milia-like idiopathic calcinosis cutis: an unusual dermatosis associated with Down syndrome

Summary We describe two boys affected by Down syndrome (DS), who showed milia-like idiopathic calcinosis cutis (MICC). The clinical diagnosis was confirmed by histological examination. All reported cases are reviewed and compared. Syringeal structures play a significant part in the pathogenesis of this dermatosis. MICC appears to be a poorly recognized condition which, rarely, is associated with DS.     

Diffuse calcinosis cutis in a patient with congenital leukemia and leukemia cutis

We report an unusual case of congenital leukemia with leukemia cutis (LC) and diffuse calcinosis cutis. A newborn girl presented with widespread dusky red and yellowish cutaneous nodules and papules. Bone marrow morphology was consistent with the diagnosis of acute monocytic leukemia of the FAB M5 type. Skin biopsy specimens confirmed the presence of a leukemic infiltrate and revealed calcium salt deposition in the papillary and reticular dermis. Calcinosis was diffuse in the whole skin but spared other organs. Vascular calcification was not present. Serum calcium levels oscillated between 2.5 and 2.86 mmol/l, and phosphorus, parathyroid hormone and 25-hydroxyvitamin D(3) levels were normal. There were diffuse osteoporosis and spontaneous fractures of small tubular bones. The patient responded to chemotherapy but, following consolidation treatment, developed sepsis and died at 120 days of age. Congenital leukemia is rare and LC is uncommon. Hypercalcemia may be a complication of leukemia, which leads to multiorgan metastatic calcification. Despite the absence of frank hypercalcemia, the presence of bone lesions suggests that the patient's calcinosis cutis was of the metastatic type. However, the cutaneous leukemic infiltrate may also represent a triggering factor for calcium deposition in the skin.     

Regression of cutis calcinosis with diltiazem in adult dermatomyositis

Calcinosis cutis is common in several connective tissue diseases such as dermatomyositis, scleroderma or lupus erythematous. In dermatomyositis, it is more likely to concern children than adults but it is not exceptional in adults. Several treatments have been used empirically with inconsistent success. We report a case of adult cutis calcinosis associated with dermatomyositis which responded dramatically to treatment with diltiazem.     

Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis

Abstract: Poikiloderma with neutropenia (PN), Clericuzio type (OMIM #604173) is a new, unique genodermatosis first described by Clericuzio et al (Am J Med Genet A, 2011, 155, 337) in Navajo Indian population. This disease is characterized by poikiloderma that usually develops in the first year of life and is associated with nail abnormality, palmoplantar hyperkeratosis, chronic neutropenia, and recurrent infections. The rash typically starts from the extremities and spreads centripetally to involve the trunk, face, and ears. Recently, a homozygous mutation in the C16orf57 gene on chromosome 16q13 was identified as a strong candidate as the gene responsible for PN. We report three cases of PN whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis of PN. One child has developed multiple painful calcinosis cutis lesions. Early‐onset poikiloderma should prompt a complete blood count as a screening test.     

Worsening of calcinosis cutis with teriparatide treatment in two osteoporotic patients

We present two cases of patients with systemic autoimmune diseases (one with dermatomyositis and one with CREST syndrome) who presented with a worsening of calcinosis cutis after treatment of osteoporosis with teriparatide. To our knowledge, this association is not described in the literature and might be considered in the spectrum of adverse reactions to teriparatide.     

Fulminant metastatic calcinosis with cutaneous necrosis in a child with end-stage renal disease and tertiary hyperparathyroidism

Summary Metastatic calcinosis is a common feature of chronic renal failure. Its first manifestations are bone demineralization and non-visceral and/or visceral calcification with mostly mural deposits in arteries and arterioles. It is initially characterized by hyperphosphataemin followed by secondary or tertiary hyperparathyroidism. Cutaneous involvement is a rare complication. Histologically, the lesions show vascular calcification with ischaemic skin necrosis. Extreme cases may produce calcinosis cuits (calciphylaxis), i.e. disseminated calcification of the subcutaneous tissue and dermis in the form of hard painful cutaneous nodules and plaques with subsequent ulceration. Metastatic calcinosis is a disease affecting adults. While the dystrophic or idiopathic type can develop in children. We present the case of a 6-year-old boy with end-stage renal disease, attributed to congenital renal hypoplasia, and accompanied by secondary hyperparathyroidism. He developed fulminant tertiary hyper- parathyroidism and metastatic caleinosis of the lungs, as well as cutaneous neerosis of the buttocks and legs, subsequent to calcification of arteries and arterioles. A maternal renal transplant failed to function. The serum parathormone, calcium and phosphate levels could not be controlled by maintenance dialysis, phosphate binders and calcitriol. Total parathyroldectomy without auto-transplantation of parathyroid tissue rapidly returned the serum parathormone, calcium and phosphate levels to normal. In addition, topical treatment using merbromine solution and hydro- colloid dressings, healed the ulcers with significant scar formation, within 2.5 months after para- thyroidectomy. A renewed increase of the calcium x phosphate product, 2 months after parathyroidectomy, was attributed to mobilization of calcium compounds from the viseera, as confirmed by a chest X-ray.