Manifestaciones cutáneas por COVID-19 en paciente polisintomática / Cutaneous manifestations of COVID-19 in a polysymptomatic patient

La infección por SARS-CoV-2 se caracteriza por manifestaciones múltiples, entre las que las más habituales son la fiebre, la tos y la dificultad respiratoria. Sin embargo, se ha observado la presencia, cada vez más frecuente, de diferentes lesiones cutáneas que pueden persistir durante el curso de toda la enfermedad, constituyendo la principal o única sintomatología en determinados casos. No se ha demostrado que la presencia ni el grado de afectación de estas manifestaciones cutáneas estén relacionados con el pronóstico. Presentamos el caso de una mujer de 25 años, con fiebre de cinco días de evolución, acompañada de clínica respiratoria. Tras la desaparición de dicha sintomatología, comenzó con un exantema maculopapular, de doce días de duración. La aparición de nuevas enfermedades, especialmente con la gravedad e importancia epidemiológica de la infección ocasionada por SARS-CoV-2, obliga al especialista en Medicina de Familia a considerar en su sospecha diagnóstica cualquier tipo de sintomatología, aunque no se incluya entre la que habitualmente caracteriza a la nueva patología

SARS-CoV-2 virus infection is characterized by multiple manifestations, among which fever, cough, and shortness of breath are the most frequent. However, an increasing presence of different skin lesions has been observed, which may persist over the whole course of the disease, and which in certain cases are the main or only symptom. The connection of the presence or the degree of affectation of these cutaneous manifestations with prognosis has not been confirmed. We present the case of a 25-year-old woman, who had had fever for five days, together with respiratory symptoms. After those symptoms had resolved, a maculopapular rash appeared, lasting for twelve days. The emergence of new diseases, especially those with the severity and epidemiological significance of the SARS-CoV-2 infection, compels the Family Medicine specialist to consider any type of symptomatology in their suspected diagnosis, even if it is not included among the usual symptoms of the new disease

Multiple hyperpigmented papules and plaques.

We had our suspicions as to the diagnosis, but a particular sign was missing. The biopsy settled things.

[Bone involvement in systemic mastocytosis: Report of two cases]. / Compromiso óseo en mastocitosis sistémica: una asociación frecuente, pero muchas veces inadvertida.

Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.

Compromiso óseo en mastocitosis sistémica: una asociación frecuente, pero muchas veces inadvertida / Bone involvement in systemic mastocytosis: report of two cases

Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.

[Vulvar oedema revealing systemic mastocytosis]. / Œdème vulvaire révélant une mastocytose systémique.

BACKGROUND: Systemic mastocytosis is characterised by abnormal proliferation of mast cells in various organs. We report an original case of systemic mastocytosis revealed by vulvar oedema. PATIENTS AND METHODS: A 24-year-old patient was examined in the dermatology department for vulvar oedema appearing during sexual intercourse. She presented vasomotor dysfunction of the lower limbs, urticaria on the trunk on exertion, diarrhoea and bone pains. Laboratory tests showed serum tryptase of 29.7µg and plasma histamine at twice the normal value. Myelogram results showed infiltration by dysmorphic mast cells. Screening for c-kit D816V mutation was positive. Duodenal biopsies revealed mast-cell clusters with aggregation involving over 15 mast cells. CD2 staining was inconclusive and CD25 staining could not be done. Trabecular osteopenia was found, and we thus made a diagnosis of indolent systemic mastocytosis (ISM variant Ia) as per the WHO 2008 criteria. Symptomatic treatment was initiated (antiH1, H2, antileukotrienes) and clinical and laboratory follow-up was instituted. DISCUSSION: The cutaneous signs leading to diagnosis in this patient of systemic mastocytosis involving several organs were seemingly minimal signs associated with mastocyte degranulation. This is the third recorded case of mastocytosis revealed by vulvar oedema and the first case revealing systemic involvement. The two previously reported cases of vulvar oedema revealed cutaneous mastocytosis alone. Mastocytosis, whether systemic or cutaneous, must be included among the differential diagnoses considered in the presence of vulvar oedema.

Paediatric mastocytosis: a systematic review of 1747 cases.

Paediatric mastocytosis was previously considered to be a benign and spontaneously regressing disease. However, this evolution is impossible to predict. To clarify the characteristics and course of paediatric mastocytosis, we performed a literature review of 1747 cases published between 1950 and April 2014. Lesions occurred before the age of 2 years in 90% of cases, and presented as urticaria pigmentosa (75% of cases), mastocytoma (20%) or diffuse cutaneous mastocytosis (5%). The male-to-female ratio was 1·4. KIT D816V mutation was detected in 34% of 215 tested patients. Clinical regression (complete or partial) occurred in 67% of cases and stabilization in 27%. However, the outcome was fatal in 2·9% of patients.

Two cases of dermatoses koebnerizing within fields of previous radiotherapy.

We describe two patients with newly diagnosed dermatoses localizing to the radiotherapy field following treatment for breast cancer. Patient 1 was a 53-year-old woman who developed bullous morphoea on her left breast two years after radiotherapy. Patient 2 was a 43-year-old woman who developed urticaria pigmentosa on her right breast eight months after radiotherapy and similar lesions gradually developed beyond the radiotherapy field. Both patients experienced a significant delay in diagnosis due to diagnostic confusion and concern over breast cancer recurrence. Irradiated skin demonstrates gradual and sustained alterations in fibrosis due to the production of long-lived cytokines and chemokines. These changes can induce a koebnerizing response in conditions such as morphoea and urticaria pigmentosa. We explore the mechanisms behind radiotherapy-induced skin changes, and highlight the potential for radiotherapy to exacerbate or unmask underlying dermatoses and systemic disease in the months and years following treatment.

Cutaneous mastocytosis extending beyond a radiotherapy site: a form of radiodermatitis or a neoplastic phenomenon?

Ionising radiation is often used as an adjuvant in the management of breast cancer. Acute and chronic skin changes are well recognised complications associated with its use. We demonstrate a rare clinical presentation of cutaneous mastocytosis that occurred at the site of radiotherapy and then extended beyond this boundary, and ask whether this can be treated as a localised side effect of radiotherapy or whether the potential for systemic mastocytosis needs to be excluded.

Neurologic symptoms and diagnosis in adults with mast cell disease.

OBJECTIVE: To identify complications of mastocytosis that impact the nervous system across a large cohort. PATIENTS AND METHODS: In this retrospective series, we reviewed the electronic medical records of adult patients with a diagnosis of mastocytosis who were referred to a Neurologist at Mayo Clinic in Rochester, MN from January 1, 1999 to December 31, 2008. RESULTS: Thirty patients were identified who presented to a Neurologist with symptoms potentially related to the mast cell disease. Twelve of these patients presented with complex spells involving syncope, which frequently preceded a formal diagnosis of mastocytosis. Nine individuals presented with acute back pain which was ultimately deemed symptomatic of vertebral compression fractures. One individual experienced spinal cord compression from a vertebral mast cell infiltrate. Headaches were reported in 78/223 (35%) total patients with mastocytosis. Although details of headaches were insufficiently ascertained to diagnose most, the five individuals in our referral cohort met International Headache Society (IHS) criteria for migraine. Finally, three individuals (1.3%) were identified with multiple sclerosis occurring at variable times after the mast cell diagnosis. CONCLUSION: Symptoms related to mastocytosis may be encountered by neurologists and mimic many common, often idiopathic syndromes including, syncopal spells, back pain, and headache. In our cohort, multiple sclerosis may be over-represented. Mastocytosis should be considered in patients with these presentations, especially when also accompanied by flushing, abdominal cramping or diarrhea.

Urticaria pigmentosa-mastocitosis sistémica / Urticaria pigmentosa/systemic mastocytosis

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Urticaria pigmentosa associated with acute stress and lesional skin mast-cell expression of CRF-R1.

A 38-year-old woman presented with a pronounced increase in symptoms and proliferation of urticaria pigmentosa (UP) after acute psychological stress, which was quantified using the Spielberger's State-Trait Anxiety Inventory. Immunohistochemical examination of a skin biopsy from a new UP lesion showed a large number of activated mast cells expressing corticotrophin-releasing factor receptor-1 (CRF-R1) and there was high serum CRF. This is the first documented report to our knowledge of UP worsening associated with acute stress, possibly through activation of skin mast-cell CRF-R1.

Urticaria pigmentosa / Urticaria pigmentosa

La proteína de la leche de vaca es el primer alimento no homólogo introducido en la dieta durante la infancia. Es una de las causas mas frecuentes de alergia alimentaria en niños y está implicada en reacciones de hipersensibilidad como exantemas y urticaria. Se deben considerar en el diagnóstico diferencial otras causas menos frecuentes de lesiones cutáneas en niños. La mastocitosis en una rara enfermedad, caracterizada por el aumento de mastocitos en los tejidos, que puede producir alteraciones tanto sistémicas como cutáneas. En pacientes pediátricos la forma cutánea más frecuente es la urticaria pigmentosa, donde el acúmulo anormal de mastocitos se limita a la piel y los pacientes están asintomáticos o presentan mínima afectación

Cow’s milk is usually the fi rst foreign protein introduced into an infant’s diet. It is one of the most common food allergiesin young children and has been implicated in several hypersensitivity reactions such as rashes and urticaria. Other less frequent causes of rashes in children should also be considered in the differential diagnosis. Mastocytosis is a group of rare disorders, both cutaneous and systemic, that are characterized by an increased numbers of mast cells in the tissues and organs. In paediatric patients, cutaneous involvement is most prevalent in the form of urticaria pigmentosa, abnormal mast cell accumulation is limited to the skin which is typically asymptomatic or only slightly affected

UVA1 phototherapy for cutaneous diseases: an experience of 92 cases in the United States.

BACKGROUND: The efficacy and safety of UVA1 (340-400 nm) phototherapy were established by studies from European countries. PURPOSE: Evaluate experience with UVA1 phototherapy for patients with cutaneous diseases in the United States. METHODS: A retrospective analysis of 92 cases of UVA1-treated cutaneous conditions from four medical centers in the United States was performed. RESULTS: Two-third of the patients showed a fair to good response (26-100% improvement) and one-third of the patients showed a poor response (0-25% improvement). Diseases with a moderate to good response (51-100% improvement) included scleredema adultorum, hand or foot dermatitis, atopic dermatitis, morphea (medium or medium- to high-dose UVA1), systemic sclerosis, and urticaria pigmentosa. Besides tanning, other adverse effects were found in 15% of patients, which include pruritus, erythema, tenderness, and burning sensation. Patients with skin types I-III responded better that those with a darker skin type. CONCLUSION: UVA1 phototherapy is a useful and well-tolerated treatment option for a variety of skin conditions.