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Biomedical subjects

Jaime Toribio

Publications and source records attributed to Jaime Toribio.

At least 19 recordsLinked to original sources
PubMed2007

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES. We report a female and her father with BPES type I, who presented the 1092-1108dup17 mutation in the FOXL2 gene. Molecular studies and the typical clinical features of BPES should allow the dermatologist to reach an early diagnosis and permit the treatment of eyelid alterations and the investigation of infertility.

Adult↗
PubMed2006

[Porphyria cutanea tarda in a dialyzed female patient].

Dermatological disorders are a frequent finding in patients with renal insufficiency. Porphyria cutanea tarda, pseudoporphyria, phototoxicity or concurrent bullous diseases may cause the appearance of lesions with liquid content in patients in dialysis. We describe the case of a female patient in dialysis who developed bullous lesions. The clinical and laboratory findings were initially compatible with the suspicion of pseudoporphyria, but the finding of some frankly elevated levels of porphyrins in serum, urine and feces confirmed the diagnosis of porphyria cutanea tarda. Porphyria cutanea tarda and pseudoporphyria present with common clinical manifestations. However, the levels of porphyrins in plasma, urine and feces in pseudoporphyria are normal or slightly elevated.

Adult↗
PubMed2006

[Cryoglobulinemic syndrome: presentation of four cases with skin involvement].

Cryoglobulins are serum immunoglobulins that precipitate reversibly when the serum is cooled below 371 degrees C. In cryoglobulinemic syndrome, a multitude of organs can be involved, but many patients suffer from a moderate, chronic disease consisting of palpable purpura, arthralgia and fatigue. Skin involvement is especially useful in aiding early recognition of this entity. We present four patients with cryoglobulinemic syndrome and skin lesions, in whom it was not possible to find an etiological or associated factor. We discuss the etiopathogenesis, clinical and pathological findings, treatment and prognosis of this entity.

Adrenal Cortex Hormones↗
PubMed2006

[Acrokeratosis paraneoplastica with bullous lesions associated with esophageal squamous cell carcinoma].

Acrokeratosis paraneoplastica (Bazex syndrome) is characterized by an acral eruption with a psoriasiform appearance, which usually presents simultaneously with an underlying neoplasm. We describe the case of a 64-year-old male who presented with a two-month history of pruritic, flaky, erythematous lesions on the palms, backs of the fingers and toes and pinnae, accompanied by bullous lesions. The patient also reported progressive dysphagia in the last six months, and general wasting with a loss of 15 kg. The digestive endoscopy revealed a squamous cell carcinoma in the proximal esophagus. The histopathological study of the bullous lesions showed the presence of a subepidermal bulla, and direct immunofluorescence revealed granular deposits of IgG, IgA and C3 in the basal membrane of the healthy perilesional skin. These clinical/pathological findings support the existence of an immunological pathogenic mechanism related to this entity.

Acrodermatitis↗
PubMed2006

[Generalized pustular psoriasis and cytolytic hepatitis associated with neutrophilic cholangitis].

Generalized pustular psoriasis (GPP) of the von Zumbusch type may be associated with liver disorders, usually resulting in cholestatic hepatitis with neutrophilic cholangitis. We describe the case of a woman who experienced a first episode of GPP, during which she presented with an increase in hepatic cytolysis parameters. An abdominal ultrasound and serological studies did not show any significant anomalies. A liver biopsy showed the presence of a neutrophilic infiltrate around the bile ducts of the portal space. In short, this fact suggests that neutrophilic cholangitis in the context of this disease may initially show patterns of analytical alterations other than the classically described cholestatic pattern.

Adult↗
PubMed2006

Allergic contact dermatitis to plants in a Spanish dermatology department: a 7-year review.

To investigate the incidence of allergic contact dermatitis (ACD) to plants in our area, we reviewed the records of the patients that were studied in the Allergic Contact Unity of our hospital in the last 7 years (2248 patients). We found 69 cases of positive patch tests to plant allergens, representing 3% of all the patients in that period. Diallyl disulfide was the most frequent allergen (47 cases), involving mainly middle-aged housewives with chronic hand eczema. Positive tests to sesquiterpene lactone mix (SL mix) were found in 11 patients, mostly middle-aged rural workmen with an airborne clinical pattern. Other allergens detected were lichens, primin, tulipalin A and wood. These results show a high incidence of ACD to diallyl disulfide that, in our opinion, should be tested in all housewives or cooks with chronic hand eczema. The predominance of the classical airborne pattern of allergy to SL in our study may be because the airborne way of allergen exposure in our area, with a high percentage of rural population, is the most frequent, and it makes it important to remember this possibility in the differential diagnosis of photosensitivity.

Adult↗
PubMed2006

Multinucleate cell angiohistiocytoma. Report of five cases.

BACKGROUND: Multinucleate cell angiohistiocytoma is an infrequent and most likely non-neoplastic disorder usually seen in acral regions in elderly women. It presents clinically as asymptomatic red-to-brown tumors, with a tendency to confluence. It must be distinguished from other diverse cutaneous lesions, notably dermatofibroma, Kaposi sarcoma, and angiofibroma. METHODS: We report the clinical, histopathological, and immunohistochemical findings of five patients, all women aged between 51 and 78 years. All except the first presented lesions on both of the lower limbs. None of the patients developed spontaneous resolution of the lesions and one was successfully treated by cryosurgery. COMMENTS: Multinucleate cells are characteristic, but neither exclusive nor pathognomonic, of multinucleate cell angiohistiocytoma, since they can also appear in other inflammatory, neoplastic, or reactive processes. The presence of these cells and vascular proliferation in dermis media are the principal histopathological findings in this infrequent entity. In immunohistochemical studies, the multinucleate cells are often positive for vimentin and factor XIIIa.

Aged↗
PubMed2006

Allergic contact dermatitis from EMLA cream in a hemodialyzed patient.

The eutectic mixture EMLA cream has many medical uses, including pain relief for hemodialyzed patients prior to cannulation. Cutaneous side effects associated with its application have rarely been reported. A patient on hemodialysis developed an itchy eruption over his brachial arteriovenous fistula, where he was applying EMLA cream three times per week, prior to puncture for hemodialysis. Patch testing elicited a positive reaction to several allergens, including EMLA cream "as is" and prilocaine. The lesions resolved after topical treatment with corticosteroids.

Aged↗
PubMed2005

[Toxic epidermal necrolysis caused by lamotrigine].

Toxic epidermal necrolysis (TEN) is a serious entity consisting of a generalized eruption with the formation of flaccid blisters. It affects at least 30 % of the cutaneous surface and is usually related to the prior ingestion of medications. We describe TEN symptoms related to the introduction of lamotrigine, an anti-epileptic drug prescribed in this case for the prevention of migrainous episodes.

Adult↗
PubMed2005

[Pemphigus vulgaris beginning as the Koebner phenomenon].

Pemphigus vulgaris is an autoimmune disease characterized by acantholysis and intraepidermal bullae formation. The isomorphic Koebner phenomenon is a response to different stimuli, and it has been described in many skin disorders. An association between the two has rarely been described. We present a case of pemphigus vulgaris that appeared over surgical scars. Pemphigus vulgaris over scars is very rare. In our case, the reactivation of the pemphigus antigens in the surgical scar probably caused a generalized autoantibody response, with the formation of bullae on the patient's trunk.

Cicatrix↗
PubMed2005

[Clinically-amyopathic dermatomyositis: presentation of three cases].

Dermatomyositis is a connective tissue disease which has several factors involved in its etiology. Recently, the existence of a sub-type called amyopathic dermatomyositis has been accepted, whose cutaneous manifestations are indistinguishable from the ones that appear in the classic form of the disease. However, it is different from the classic form in that clinical findings of muscular involvement are initially absent. The association of these two sets of symptoms with the possible presence of an underlying neoplastic process has been described on numerous occasions, and has been the subject of extensive debate. We present three patients with amyopathic dermatomyositis, two males aged 27 and 45 and a female aged 54, the latter associated with a malignant process, and we discuss and review the main differential features of the entity and its relationship with different types of neoplasms.

Adult↗