Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy caused by postzygotic, activating pathogenic variants in HRAS, NRAS, or KRAS. It is characterized by congenital epidermal, melanocytic, or sebaceous nevi, elevated FGF23 levels that cause renal phosphate wasting and rickets, and focal bone lesions. We report a 13-year-old girl with CSHS from Argentina.

Postinfectious purpura fulminans: A case report.

Acquired postinfectious purpura fulminans is a rare, acute, and severe disease characterized by skin necrosis associated with disseminated intravascular coagulation (DIC) in the absence of active infection or previous coagulation disorders. It mainly affects the pediatric population and, in 90% of cases, it is preceded by an infectious process. The pathophysiological mechanism is a transient autoantibody-mediated protein S deficiency that favors a hypercoagulable state.

Clinical presentation of non-malignant diseases mimicking leukemia cutis: A report of two cases.

The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main differential diagnoses include infections, other neoplastic diseases with skin involvement and histiocytic disorders, among others, as they entail different prognostic and therapeutic approaches. Here we describe two patients who were initially diagnosed with leukemia cutis, whose final diagnosis was of non-malignant diseases.

[Microsporum gypseum dermatophytosis in a child with primary immunodeficiency].

Microsporum gypseum is a geophilic fungus that can cause inflammatory skin lesions in heathy people. More extensive lesions have been described in immunocompromised patients. We present a patient with extensive dermatophytosis, which mycological examination led the identification of Candida sp, Epidermophyton Floccosum and Trichophyton tonsurans and showed poor response to treatment with griseofulvina and itraconazol at usual doses.

Epidermolysis bullosa acquisita: a case series of three paediatric patients.

Epidermolysis bullosa acquisita is a highly uncommon condition in the paediatric population. This article describes three children with this disease, different clinical presentation and management. It also reviews the most relevant articles on this topic.

[Cutaneous hyperpigmentation secondary to vitamin B12 deficiency in an infant].

Cutaneous hyperpigmentation is a rare clinical feature of vitamin B12 (cobalamin) deficiency. The cause is unknown and there are different hypothesis about the pathogenesis of the hyperpigmentation. We report the case of an 8-month-old girl, with history of neuromadurative delay, hypotonia, anemia and neutropenia, who was referred to our Service by brownish hyperpigmentation on her hands and feet of 3 months of evolution.

Pilomatrixomas in children: Report of 149 cases. A retrospective study at two children's hospitals.

A pilomatrixoma is a benign skin tumor common in children, which develops from the matrix cells of hair follicles. It presents as a nodule or tumor of approximately 0.5-3 cm in size, with calcium-like consistency, faceted edges, and blue erythematous overlying skin.

[Ocular and cutaneous rosacea in a child].

Rosacea is a chronic skin disease characterized by erythema, telangiectasia, papules and pustules in the central facial region. It most often affects adults and is rare in children. Rosacea can also present ocular involvement.

Primary cutaneous lymphoma in Argentina: a report of a nationwide study of 416 patients.

Background: The aim of this study was to determine the relative frequency of primary cutaneous lymphoma (PCL) in Argentina according to the new World Health Organization (WHO)-European Organization for the Research and Treatment of Cancer (EORTC) classification system.

Methods: A total of 416 patients from 21 dermatology services were included during a 5-year period (2010-2015); these patients were classified using WHO-EORTC criteria.

Results: There were 231 (55.

[Solitary and congenital juvenile xanthogranuloma: case report].

Juvenile xanthogranuloma is a bening pathology and it represents the most common form of non-Langerhans cell histiocytosis. It is characterized by the presence of papules or firm nodules of a pinkish or yellow-brownish nature, which mainly compromise the skin and, exceptionally, other organs. It is a self-limited entity having a spontaneous regression during the first five years of life.

Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: Presentation of Two Cases Treated with Sirolimus.

Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a rare disease characterized by congenital and progressive vascular lesions of the skin and gastrointestinal tract that may be associated with thrombocytopenia and possibly life-threatening gastrointestinal bleeding. Reports published on the disease and treatment strategies are scarce. We present two cases of MLT treated with sirolimus.

Cutaneous polyarteritis nodosa.

Polyarteritis nodosa is a rare vasculitis in children characterized by necrotizing inflammation in small and medium size arteries. It is classified into systemic and cutaneous PAN according to the presence of systemic symptoms or visceral involvement. We describe the case of a 14-year-old girl with cutaneous Polyarteritis nodosa with an atypical clinical presentation.

[Bazex-Dupré-Christol syndrome: Case series].

Bazex-Dupré-Christol syndrome is an X-linked dominantly inherited disorder characterized by congenital hypotrichosis, hypohidrosis, follicular atrophoderma, multiple milia and basal cell carcinomas. We present a girl and her family with this syndrome. Our patient, her 5 month old brother and her 17 year old brother had multiple milia and scalp and eyebrows hypotrichosis.

[Neurocutaneous melanosis. Case report and literature review].

Neurocutaneous melanosis is characterized by an increased number of melanocytes and melanin deposit in central nervous system associated with giant melanocytic congenital nevi. Patients with multiple satellite nevi or giant cutaneous melanocytic nevus in a midline location (overlying the back, neck or head) have more likelihood of having neurocutaneous melanosis. In most patients, the neurocutaneous melanosis is asymptomatic, only detectable by MRI; nevertheless, those patients with clinical manifestations have a poor prognosis, dying within 3 years of initial neurological manifestations.

[Tungiasis: a case report].

Tungiasis, is a cutaneous parasitosis, native of America caused by Tunga penetrans. Infestations usually presents with black papular lesions, either single or multiple, most of them localized on the feet, mainly in the subungual and periungual areas. Diagnosis of tungiasis is based on the characteristic aspect of the lesions in a patient coming from an endemic area.

Neonatal lupus erythematosus: a report of four cases.

Neonatal lupus erythematosus is a very rare disease, clinically characterized by skin lesions that resemble those of subacute or discoid lupus erythematosus and/or congenital heart block. Generally, when patients have skin manifestations, they have no cardiac defects and vice-versa; however, in 10% of cases these manifestations may coexist. Other findings may include hematologic, hepatic and neurological abnormalities.

[Albright's hereditary osteodystrophy: report of three cases].

Albright's hereditary osteodystrophy includes an heterogeneous group of genetic diseases, including the pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism. Features of this disease are: round faces, over-weight, subcutaneous calcifications and brachydactylia. Pseudohypoparathyroidism type Ia is associated with laboratory abnormalities such as hypocalcemia, and hyperphosphatemia due to parathormone resistance.