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J M Mascaró

Publications and source records attributed to J M Mascaró.

At least 19 recordsLinked to original sources
PubMed2006

[Bart syndrome associated to lethal junctional epidermolysis bullosa (Herlitz form)].

We present the case of a newborn with congenital absence of skin in the anterior part of the left leg that shortly after developed bulla and erosions in hands, feet, ears, buttocks and mouth. The cutaneous biopsy and ultrastructural and immunohistochemical studies showed a subepidermal bulla in the lamina lucida, absence of hemidesmosomes and marked decrease of laminin 5, thus establishing the diagnosis of Bart syndrome associated to the Herlitz form of lethal junctional epidermolysis bullosa. Bart syndrome consists of congenital and localized absence of skin, nail abnormalities and mucoc-cutaneous bullae. It is usually associated to dystrophic epidermolysis bullosa. The Herlitz form of junctional epidermolysis bullosa is a rare variant, usually lethal that is produced by mutations in the genes coding for the anchor protein laminin 5. To our knowledge this is the second case that reports an association between Bart syndrome and lethal junctional epidermolysis bullosa and the first in which the results of immunofluorescence mapping are published.

Collagen Type VII↗
PubMed2006

Eosinophilic ulcer of the oral mucosa: another histological simulator of CD30+ lymphoproliferative disorders.

Eosinophilic ulcer of the oral mucosa (EUOM), also known as traumatic ulcerative granuloma with stromal eosinophilia or Riga-Fede disease, is an uncommon benign self-limited lesion poorly described in the dermatological literature. It probably includes a spectrum of related disorders presenting as an ulcer with elevated indurated borders affecting the tongue, oral mucosa or lip. Histopathological findings are characteristic and consist of eosinophil-rich mixed infiltrates accompanied by a population of large mononuclear cells whose origins have been a matter of debate. Immunohistochemical studies of these cells have suggested a myofibroblastic or histiocytic origin. We present a 93-year-old woman with two episodes of self-healing ulcers on the upper lip and on the lingual mucosa, respectively. Histopathological findings on both biopsies were consistent with EUOM and showed the presence of large atypical CD30+ lymphocytes. Some recent reports have also shown positivity for the CD30 antigen, raising the possibility that a subset of EUOM could be included within the spectrum of CD30+ lymphoproliferative disorders. This finding most likely suggests that EUOM can represent another histological simulator of CD30+ lymphoproliferative disorders.

Aged, 80 and over↗
PubMed2004

[Bronchiolitis obliterans associated with paraneoplastic pemphigus: a paraneoplastic autoimmune multiorgan syndrome].

INTRODUCTION: Paraneoplastic pemphigus is a mucocutaneous disease characterized by well defined clinical and immunopathological features associated with neoplasia. Recent evidence of bronchial epithelium involvement has led to the suggestion that this process is a paraneoplastic autoimmune multiorgan syndrome. CLINICAL OBSERVATION: We report the case of a patient with lichenoid eruptions on the skin and mucous membranes who later developed progressive dyspnea. With a suspected diagnosis of paraneoplastic autoimmune multiorgan syndrome, the following diagnostic tests were performed: histology and immunofluorescence of the skin, oral mucosa, and bronchial epithelium; indirect immunofluorescence of serum; pulmonary function tests; and evaluation for an occult neoplasm. Findings of pathology and immunofluorescence confirmed the suspected diagnosis. The computed thoracoabdominal tomography revealed signs of bronchiolitis and the presence of a retroperitoneal tumor. CONCLUSIONS: Awareness of the mucocutaneous manifestations of paraneoplastic autoimmune multiorgan syndrome, and confirmation of this diagnosis by simple laboratory techniques can facilitate the early detection of occult neoplasia and forestall respiratory involvement.

Autoimmune Diseases↗
PubMed2004

A combination therapy of calcipotriol cream and PUVA reduces the UVA dose and improves the response of psoriasis vulgaris.

BACKGROUND: The addition of calcipotriol ointment to PUVA therapy for psoriasis vulgaris results in a lower total UVA dose and a faster onset of response. The addition of calcipotriol cream to PUVA, however, has not been studied. OBJECTIVE: To investigate whether combining calcipotriol cream with PUVA therapy has a UVA sparing effect. METHODS: We performed a randomized, multicentre, vehicle-controlled, double-blind, 12-week comparative study including 120 patients with psoriasis covering 20-50% body surface area. The study consisted of a washout phase followed by a 10-week treatment phase. PUVA therapy three times weekly was added within 1 week after randomization. Efficacy was assessed by the Psoriasis Area and Severity Index (PASI). RESULTS: At baseline the mean PASI scores were 17.5 and 19.2 in the calcipotriol and vehicle (placebo) groups, respectively. At the end of treatment, the mean PASI scores were 2.65 and 7.03 (p<0.01), respectively. A reduction in PASI score >90% was observed in 69% of the patients in the calcipotriol-treated group and in 36.4% of the patients in the vehicle group (p<0.01). CONCLUSION: Calcipotriol cream plus PUVA clearly reduces the cumulative dose of UVA and improves the response of psoriasis vulgaris to PUVA.

Administration, Cutaneous↗
PubMed2004

Angiolymphoid hyperplasia with eosinophilia of the nail bed and bone: successful treatment with radiation therapy.

Angiolymphoid hyperplasia with eosinophilia (ALHE) is a rare entity characterized by the presence of one or several papules or nodules in the skin. Histopathology of ALHE shows a marked proliferation of blood vessels with distinctive large endothelial cells and variable inflammatory infiltrates with eosinophils. We report a 32-year-old Caucasian woman with multiple nodules involving the skin, subcutaneous tissue and bone of the distal phalanx of the fingers that were treated successfully with orthovoltage radiation therapy (40 Gy/20 fractions) and without any side-effects after 9 years of follow-up.

Adult↗
PubMed2002

Neonatal pemphigus vulgaris with extensive mucocutaneous lesions from a mother with oral pemphigus vulgaris.

The clinical phenotype of pemphigus is well explained by the combination of desmoglein (Dsg) 1 and Dsg3 distribution pattern and antiDsg autoantibody profile (Dsg compensation theory). It has been reported that neonatal skin has a similar Dsg distribution pattern to adult mucosal epithelia. We describe a newborn girl with mucocutaneous pemphigus vulgaris (PV) from a mother with mucosal dominant PV. The mother had had painful oral erosions for at least 7 months. Histopathological examination and direct and indirect immunofluorescence studies confirmed the diagnosis of PV and neonatal PV in the mother and daughter, respectively. The mother had a high titre of anti-Dsg3 IgG and a low titre of antiDsg1 IgG, while the neonate had only a high titre of anti-Dsg3 IgG, but no detectable antiDsg1 IgG. AntiDsg3 IgG, which caused the oral dominant phenotype in the mother, induced extensive oral as well as cutaneous lesions in the neonate. Our case provides clinical evidence for the Dsg compensation theory in neonatal PV.

Adult↗
PubMed2001

Eruptive syringoma: 27 new cases and review of the literature.

BACKGROUND: Eruptive syringomas are uncommon eccrine sweat gland tumours. Only 64 cases have been reported in the literature. OBJECTIVE: Clinical findings of 27 patients with eruptive syringomas were reviewed over a 47-year period. RESULTS: The tumours appeared as multiple yellow-brown-coloured papules localized on the neck, anterior trunk, axillae, shoulders, abdomen or pubic area. This disorder occurs more frequently among women, and is frequent in the prepubertal as well as in the postpubertal age. The diagnosis was not clinically suspected in most cases. CONCLUSIONS: Eruptive syringomas have to be considered in differential diagnosis of papular dermatosis at any age.

Adolescent↗
PubMed2000

A subepidermal bullous eruption associated with IgG autoantibodies to a 200 kd dermal antigen: the first case report from the United States.

We describe an 81-year-old white man in whom a subepidermal bullous eruption developed that clinically resembled bullous pemphigoid. The eruption promptly responded to oral tetracycline and niacinamide and topical clobetasol. Histologic examination of perilesional skin revealed neutrophilic infiltration with formation of papillary microabscesses and subepidermal cleavage. Direct immunofluorescence showed linear deposition of IgG and C3 along the basement membrane zone. By indirect immunofluorescence, circulating IgG autoantibodies bound exclusively to the dermal side of salt-split normal human skin. Immunoblot analysis demonstrated that the patient's autoantibodies reacted with a 200 kd dermal protein that was different from type VII collagen, the epidermolysis bullosa acquisita autoantigen. This patient represents the first confirmed case from the United States with a recently reported novel autoimmune subepidermal bullous disease associated with IgG autoantibodies to a 200 kd dermal antigen.

Aged↗
PubMed1999

Urinary porphyrin excretion in a human population highly exposed to hexachlorobenzene.

BACKGROUND: Data from an epidemic reported in Turkey (1955-1959) is the only information about the relationship between hexachlorobenzene (HCB) intake and porphyria cutanea tarda in humans. No information is available on the HCB threshold exposure level to induce porphyria cutanea tarda. OBJECTIVES: To study HCB serum levels and urinary porphyrin excretion in the inhabitants of a village located near an organochlorine compound factory with high HCB concentrations in the air and to detect possible alterations in urinary porphyrin excretion and examine their relationship with HCB serum levels. DESIGN: Cross-sectional study. SETTING: Unit of Porphyrias of a tertiary care facility in Barcelona, Spain. PARTICIPANTS: Six hundred four inhabitants of the village who were older than 14 years provided serum and urine samples (185 participants were factory workers). MAIN OUTCOME MEASURES: Serum HCB was analyzed by gas chromatography coupled to electron capture detection. Quantification of urinary total porphyrins was performed by spectrofluorimetry. Porphyrin profile was determined by high-pressure liquid chromatography. RESULTS: Hexachlorobenzene was detected in all serum samples (mean, 39.8 ng/mL; range, 1.1-1616.0 ng/mL), and levels were higher in factory workers. Mean +/- SD level urinary total porphyrin average concentration was 98 +/- 69 nmol/L (range, 9-1009 nmol/L). Only the urine sample with the highest porphyrin concentration showed an increase of highly carboxylated porphyrins, with a typical profile of porphyria cutanea tarda. In the remaining 603 urine samples, coproporphyrin was the predominant fraction. CONCLUSION: The airborne exposure to and increased body burden of HCB in the Flix village population are not enough to trigger a significant alteration of the heme biosynthesis pathway.

Adolescent↗
PubMed1999

Measuring health-related quality of life in patients with mild to moderate eczema and psoriasis: clinical validity, reliability and sensitivity to change of the DLQI. The Cavide Research Group.

The aim of this study was to assess the feasibility, validity, reliability and sensitivity to change of a Spanish version of the Dermatology Life Quality Index (DLQI) in patients with mild to moderate eczema and psoriasis who were treated with topical corticosteroids. The final study sample comprised 237 patients (48% eczema). Discriminant validity was tested by comparing patients' scores with those of a random sample of the general population (n = 100), and convergent validity by analysing correlations between DLQI scores, measures of clinical severity, and domain scores on the Nottingham Health Profile (NHP). Internal consistency and test-retest reliability were tested in clinically stable patients (n = 94), and responsiveness in a clinically unstable group (n = 143) initiating treatment with topical corticosteroids. Patient scores were significantly higher than general population scores (4.3 vs. 0. 27, P < 0.001). Correlations with NHP domains ranged from 0.12 to 0. 32, and there was significant correlation with clinical measures (r = 0.26, P < 0.001). Reliability was good (Cronbach's alpha = 0.83; intraclass correlation coefficient = 0.88), and the instrument proved responsive to change (effect size for the total group of de novo patients = 0.70), though the great majority of changes occurred in items 1 and 2. The NHP Emotional Reactions and Mobility domains were more responsive than some DLQI domains. In clinical trials of treatments for mild to moderate eczema and psoriasis, it is likely that only items 1 and 2 of the DLQI will be needed, and it is probably advisable to include generic instruments alongside the DLQI.

Administration, Topical↗
PubMed1999

Paraneoplastic pemphigus: a case of long-term survival associated with systemic lupus erythematosus and polymyositis.

A 35-year-old man presented with a generalized bullous eruption and oral ulceration. He had been diagnosed as having systemic lupus erythematosus and pelvic Castleman disease (hyaline-vascular type) in the past. Histologic, direct and indirect immunofluorescence and immunoprecipitation studies confirmed a diagnosis of paraneoplastic pemphigus (PNP). Initially several medical treatments were tried unsuccessfully. The pelvic tumor was surgically removed and the mucocutaneous lesions slowly regressed. Four years after presentation, he developed polymyositis which was completely controlled with short courses of corticosteroids. There was no evidence of relapse of PNP or lupus erythematosus at that time. At the 6-year follow-up he showed no clinical evidence of PNP, lupus erythematosus or polymyositis without requiring immunosuppressive therapy. This case emphasizes the fact that patients with benign-neoplasm-associated PNP may undergo complete remission of the autoimmune disease upon complete excision of the tumor. This case also stresses the possible association of PNP with other autoimmune diseases such as lupus erythematosus and polymyositis.

Adult↗