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Biomedical subjects

R M Pujol

Publications and source records attributed to R M Pujol.

At least 55 records · Page 3Linked to original sources
PubMed1997

Multiple idiopathic mucosal neuromas: a minor form of multiple endocrine neoplasia type 2B or a new entity?

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant process characterized by medullary thyroid carcinoma, pheochromocytoma, and mucosal neuromas. A point mutation at codon 918 of the RET protooncogene has been observed in approximately 90% of patients and families with MEN 2B. Mucosal neuromas are the most consistent and distinctive feature (100% of patients) of MEN 2B and are considered pathognomonic. We describe a 35-year-old woman with mucosal neuromas of the lower lip and tongue that appeared in early childhood. Examination did not reveal other abnormalities. After a follow-up of more than 22 years with periodic clinical, biochemical, and radiologic studies, no evidence of MEN 2B has been detected. Analysis of the RET protooncogene exons 10, 11, and 16 did not demonstrate point mutation in the MEN 2B region (M918T).

Adult↗
PubMed1996

Solitary sclerotic fibroma of the skin: a sclerotic dermatofibroma?

Two cases of solitary tumors showing well-demarcated hypocellular, dermal fibrocollagenous proliferations are reported. The lesions were composed of hyalinized eosinophilic collagen bundles arranged in the characteristic interwoven pattern with prominent clefts, as described in sclerotic fibroma of the skin. This pattern, although predominant, was not uniform. Some areas showed a more cellular pattern with histopathologic features suggestive of dermatofibroma. In those areas, multiple spindle-shaped cells and occasional multinucleated cells were observed. The collagen bundles did not adopt a whorled pattern, and the overlying epidermis showed mild acanthosis and elongation of the rete ridges. The sclerotic changes were present mainly at the periphery and in the deep areas of the tumor. Our observations confirm the possibility that solitary sclerotic fibroma of the skin may represent, at least in some instances, the later and sclerotic stage of other more cellular neoplasms (specifically dermatofibromas) rather than an individualized neoplasm, as has been recently proposed.

Adult↗
PubMed1996

Disseminated superficial porokeratosis developing after electron-beam total skin irradiation for mycosis fungoides.

A 74-year-old man with stage IB cutaneous T-cell lymphoma was treated with electron-beam total skin irradiation in 1988. Seven years later, multiple disseminated lesions of porokeratosis developed on the chest, extremities and abdomen. There was no family history of porokeratosis, nor history of treatment with PUVA or of excessive sun exposure. Development of disseminated porokeratosis on nonexposed sites suggests a direct role for the previous ionizing radiation. Electron-beam total skin irradiation therapy should therefore be added to the list of possible causative factors in the development of disseminated porokeratosis.

Aged↗
PubMed1996

Generalized acquired cutis laxa associated with coeliac disease: evidence of immunoglobulin A deposits on the dermal elastic fibres.

Acquired cutis laxa (ACL) is an uncommon elastolytic disorder of unknown aetiology. In rare instances, ACL has been reported in association with autoimmune diseases and dermal deposit of immunoglobulins, suggesting that destruction of elastic tissue may be immunologically mediated. We report a 35-year-old man with generalized acquired cutis laxa (GACL) associated with a persistent papular erythematous eruption that histopathologically showed some resemblance to dermatitis herpetiformis. A marked reduction and degeneration of dermal elastic fibres was noted in biopsies from loose-hanging skin. Direct immunofluorescence from non-inflammatory loose skin revealed granular immunoglobulin A (IgA) deposits at the basement membrane zone and fibrillar IgA deposits in the dermal papillae. IgA deposits were also observed on the elastic fibres of the reticular dermis. Electron microscopy of skin from the submammary fold revealed fragmented elastic fibres, partial absence of peripheral microfibrils and abundant neutrophils, some of which were degranulated and adjacent to elastic fibres. Immunoelectron microscopy of an erythematous papule revealed IgA deposits around dermal elastic fibres. Antigliadin, antireticulin and antiendomysium antibodies were present. Jejunal biopsies showed a gluten-sensitive enteropathy. A possible IgA-mediated immune mechanism for the development of GACL in our patient is suggested.

Adult↗
PubMed1995

Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome?

A 40-year-old man and his 6-year-old only son had numerous, firm papulonodular lesions on their faces. Their medical histories were unremarkable and no family consanguinity was recorded. Surgical excision of several lesions was performed on each patient. All the lesions were solid tumors with the characteristic histopathologic features of pilomatricoma. A gastrointestinal radiologic and fibroscopic survey disclosed numerous adenomatous colonic polyps in the father. Additional studies revealed that he also had minor dental abnormalities, a small osteoma on the right mandible, and unilateral, ocular, pigmented retinal macules. The diagnosis of multiple adenomatous colonic polyposis was established only after the well-known association of pilomatricoma-like changes in epidermal cysts in patients with Gardner syndrome was considered. Possibly, multiple familial pilomatricomas could be considered a cutaneous marker of Gardner syndrome.

Adult↗
PubMed1995

Lipomembranous changes in nodular-cystic fat necrosis.

Three cases of nodular-cystic fat necrosis presenting with focal lipomembranous changes are reported. The lesions consisted of solitary (cases 1 and 3) or multiple (case 2) subcutaneous nodules on the upper (case 1) or lower (cases 2 and 3) extremities which had evolved over weeks to years. At surgical excision, solitary or multiple, freely mobile nodules within a cystic cavity were observed. Histologically, encapsulated fat nodules showing variable amounts of necrosis without marked inflammatory changes were present. Focal lipomembranous changes were observed in some nodules. Our observations seem to support the concept that lipomembranous changes are nonspecific and uncommon patterns of fat necrosis caused by a wide variety of local or systemic events that may cause a compromise in the blood supply of the subcutaneous tissue.

Adipose Tissue↗
PubMed1995

Persistent subcutaneous nodules in patients hyposensitized with aluminum-containing allergen extracts.

BACKGROUND: The development of persistent nodules that cause pain and itching at a vaccination or hyposensitization injection site is a rare event. These lesions have been mainly attributed to a hypersensitivity reaction to aluminum hydroxide, which is used as an absorbing agent in many vaccines and hyposensitization preparations. Patch tests with standard antigens and aluminum compounds and histopathologic and ultrastructural studies were performed on 10 patients with persistent subcutaneous nodules on the upper part of their arms after injection of aluminum-adsorbed dust and/or pollen extracts. OBSERVATIONS: The nodules appeared 1 month to 6.5 years after injections. The results of patch tests with 2% aluminum chloride were positive in five patients. Histopathologic examination revealed two different patterns: some biopsy specimens (from lesions of less than 9 months' duration) showed a pure foreign body histiocytic reaction characterized by extracellular amorphous dermal basophilic deposits with a histiocytic-macrophagic reaction; others showed a delayed hypersensitivity granulomatous reaction in association with an histiocytic foreign body response. The lesions were characterized by a unifocal or multifocal unencapsulated granulomatous reaction in the deep dermis and/or subcutaneous tissue. Eosinophilic necrotic areas surrounded by dense fibrous bands and a massive inflammatory infiltrate (lymphoid follicles, large histiocytic cells, abundant eosinophils, and some plasma cells) were observed. A granular basophilic material in extracellular spaces and within the cytoplasm of some histiocytes was also noted. Electron microscopic studies revealed intracytoplasmic and extracellular deposits of a fibrillar electron-dense material. CONCLUSIONS: Persistent subcutaneous nodules that develop after the administration of aluminum-containing preparations may show two characteristic histopathologic patterns. A pure histiocytic foreign body reaction was observed in early lesions, and a delayed hypersensitivity granulomatous reaction was seen in older lesions. No relationship between histopathologic pattern and patch test results was observed. Aluminum-free preparations should be used in patients in whom these nodules develop.

Adsorption↗
PubMed1994

Infantile eosinophilic pustular folliculitis.

BACKGROUND: Eosinophilic pustular folliculitis (EPF) is a cutaneous inflammatory follicular disorder of unknown etiology. The diagnosis is established on the basis of clinical and histopathologic features. In only a few instances has EPF been described in children. OBJECTIVE AND METHODS: We describe the clinical and histopathologic features of a recurrent follicular eosinophilic pustular eruption involving the scalp in 2 children. Previously reported cases of EPF in childhood below 14 years of age are reviewed. RESULTS: Two patients (9-month-old and 6-month-old boys) presented current crops of follicular pustules on the scalp of 4 and 5 months' evolution. The lesions resolved spontaneously without scarring. Histopathologic examination revealed an acute follicular inflammatory infiltrate with abundant eosinophils. Scraping from the lesions showed abundant eosinophils in 1 case. A peripheral eosinophilia was also detected in both patients. CONCLUSION: EPF in children below 1 year of age seems to represent a unique disorder bearing distinctive clinical (constant involvement of the scalp), evolutive (self-healing recurrent crops) and prognostic (the lesions may last until 3 years of age) features. A possible relationship between this disorder and other idiopathic pustular dermatoses of early childhood (especially with infantile acropustulosis) is suggested.

Eosinophilia↗
PubMed1992

Focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations.

Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations. The lesions consisted of patchy, atrophic, scaly, telangiectatic macules arranged in a linear pattern along Blaschko's lines, involving the anterior and lateral aspects of both legs (patient 1) and the anterolateral aspect of the left leg (patient 2). Type I partial syndactyly involving the second and the third toes in both patients was also present. The clinical and histopathologic features and diagnostic difficulties of cases of this disorder with minimal cutaneous and extracutaneous manifestations are discussed.

Adolescent↗
PubMed1991

Tufted-hair folliculitis.

A 21-year-old man presented with an erythematous pruritic plaque on the right parietal scalp of 2 years' evolution. Physical examination disclosed multiple bundles of hairs emerging from single dilated follicular openings. The disorder followed a relapsing and progressive course, in spite of several topical and systemic treatments. New tufts of hairs appeared in previously non-involved areas only after inflammatory changes occurred. The clinicopathological features, aetiological mechanisms and management of tufted-hair folliculitis are discussed. Tufted-hair folliculitis (THF) is a localized, inflammatory and exudative disease of the scalp characterized by a tufted appearance of the scalp hair, that may result in permanent and irreversible scarring alopecia. This condition was initially described by Smith and Sanderson in 1978 who coined the term THF to illustrate the phenomenon of multiple hairs emerging from single follicular openings. Only nine additional cases of THF have been reported elsewhere. We present herein a patient with recurrent and progressive THF resistant to several therapeutic strategies.

Adult↗