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Biomedical subjects

A Patrizi

Publications and source records attributed to A Patrizi.

At least 145 records · Page 8Linked to original sources
PubMedDate not supplied

Kindler syndrome: report of a case with ultrastructural study and review of the literature.

Kindler syndrome is characterized by a generalized, progressive poikiloderma with cutaneous atrophy, congenital acral skin blistering, and photosensitivity. Since the first description, approximately 70 cases have been reported worldwide, but ultrastructural studies were performed in only five patients. In none of these patients were biopsies done at birth. In our patient ultrastructural studies were performed both of the blister at birth and of the poikilodermatous and atrophic skin at 6 years of age. Some ultrastructural features in the context of a bullous disease of the newborn that resembles epidermolysis bullosa, should alert investigators to the possibility of Kindler syndrome even in absence of the typical clinical signs.

Atrophy↗
PubMedDate not supplied

Pachydermodactyly in two young girls.

Pachydermodactyly is a benign, superficial fibromatosis frequently observed in young males. We describe the condition in two young girls affected by Ehlers-Danlos syndrome (EDS) and tuberous sclerosis, respectively. We hypothesized that in the patient with tuberous sclerosis, pachydermodactyly is a clinical manifestation of the associated systemic disease, whereas obsessive-compulsive behavior is probably the main cause in the girl with EDS.

Biopsy↗
PubMedDate not supplied

What syndrome is this?

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Histiocytic Sarcoma↗
PubMedDate not supplied

Simultaneous occurrence of lichen striatus in siblings.

Lichen striatus (LS) is a self-limiting linear papular dermatosis of unknown etiology seen mostly in children. We report LS occurring in two pairs of siblings: two sisters who had LS at an interval of 6 months and a brother and sister who had the dermatosis contemporaneously after an episode of flulike fever. In all four patients family history was positive for atopy. LS is frequently associated with atopic diseases. The abnormal immune status of patients with atopy may be a predisposing factor in the induction of LS. In our patients the simultaneous occurrence of LS in siblings after a flulike fever appears to corroborate the hypothesis that a viral infection is a possible candidate, as other authors have proposed. The rarity of familial cases of LS is, in our opinion, due to the exceptional confluence of difference sporadic events (atopy, viral infection caught at a specific period of life such as childhood, and a genetic predisposition) simultaneously present in the same patient.

Child↗
PubMedDate not supplied

Sarcoidosis of the breast: a rare case report and a review.

Sarcoidosis is an idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands. Breast involvement is extremely rare, but, when present, it could be confused with a benign or, more important, a malignant neoplasm. We have reported a case of sarcoidosis of the breast in a 51 years old woman with systemic manifestations of sarcoidosis (arthralgias and uveitis) associated with a breast mass and with a clinical history of fibrocystic mastopathy. A chest X-ray and a Computed Tomography (CT), with raised serum levels of Angiotensin Converting Enzyme (ACE), were compatible with a diagnosis of sarcoidosis. The mammography and ultrasonogram showed a solitary little nodular lesion localized in the breast. A breast cancer in a patient with sarcoidosis? To answer this question, the patient performed breast surgery under general anaesthesia and bioptic microscopic examination showed a typical sarcoid granuloma.

Biopsy↗
PubMedDate not supplied

Sweet's syndrome and chronic lymphocytic leukemia associated with scirrhous breast cancer. A case report.

A 55-year-old woman developed Sweet's syndrome (acute febrile neutrophilic dermatosis, AFND) 5 years after a diagnosis of chronic lymphocytic leukemia (CLL). Two months later she developed a scirrhous carcinoma of the breast. The patient died 7 months later from sepsis. To our knowledge, this is the first case of an association among a cancer of the breast, CLL and Sweet's syndrome.

Adenocarcinoma, Scirrhous↗
PubMedDate not supplied

[Sebaceous linear nevus syndrome with hemimegalencephaly. Report of a case].

The case of a 7-year-old girl, born from a monochorionic biamniotic pregnancy (with healthy male twin) is presented. The patient showed a congenital brown-yellowish, raised, rough and oval-shaped nevic neoformation of the right temporo-zygomatic region. At 28 days of age she had a right hemiclonic status epilepticus, and from the 8th month of life she presented right sided partial motor seizures. Moreover from the beginning, her development milestones were delayed. When she was 5 years old an electroencephalogram displayed a sharp asymmetrical background activity, a continuous paroxysmal activity on the right hemisphere and independent focal irritative anomalies on the left posterior region. Her computed tomographic scan demonstrated megalencephaly on the right hemisphere. A biopsy specimen of her skin lesion showed the histological characteristics of a nevus sebaceous of Jadassohn. Taken together the clinical, neuroradiological and dermatological data led to the diagnosis of linear nevus sebaceous syndrome.

Cerebral Cortex↗