[Elastosis perforans serpiginosa in a patient with pseudoxanthoma elasticum]. / Elastosis perforans serpiginosa en una enferma afecta de pseudoxantoma elástico.

A 34-year-old female previously diagnosed of pseudoxanthoma elasticum developed an annular plaque with serpiginous borders of 42 by 30 mm in diameter on the inner left arm. A similar lesion later appeared on the inner right arm. Histopathological examination of a papule showed short, fragmented, granular, basophilic and calcified elastic fibers in the mid-reticular dermis. The epidermis showed hyperplasia surrounding degenerated and normal elastic fibers. Transepidermal elimination channels of these elastic fibers were also observed. These findings were consistent with the diagnosis of elastosis perforans serpiginosa. Abundant multinucleated giant cells were observed surrounding the area of epidermal hyperplasia and in the reticular dermis. The patient was treated with tazarotene, and the plaques disappeared in 9 months.

Clinical, histopathologic, and therapeutic aspects of subepidermal autoimmune bullous diseases with IgG on the floor of salt-split skin.

BACKGROUND: About 12% of patients with subepidermal autoimmune bullous disease and immunoglobulin G (IgG) at the dermal-epidermal junction present diseases other than bullous pemphigoid. MATERIALS AND METHODS: We report the clinical, histopathologic, and therapeutic aspects of eight cases of subepidermal bullous disorder with IgG on the floor of salt-split skin. RESULTS: A predominant neutrophilic infiltrate was detected in six of the eight patients. In one patient, the inflammatory infiltrate was neutrophilic and eosinophilic in the same proportion. A good response to dapsone alone or combined with prednisone was observed in six patients. CONCLUSIONS: The salt-split skin direct immunofluorescence test is useful for its diagnostic and therapeutic implications.

Amelanotic lentigo maligna melanoma: report of a case and review of the literature.

Amelanotic lentigo maligna melanoma (ALMM) is an infrequent presentation of lentigo maligna melanoma, less than thirty cases having been reported to date. Hypopigmented or erythematous macules on the face of older women, resembling Bowen's disease or eczema, are the most common clinical presentation. We report a case of ALMM in a 73-year-old woman. Therapeutic trials with cryotherapy, 5-fluorouracil, and azelaic acid were unsuccessful, and the lesions were eventually cured by surgical excision. ALMM requires early clinical suspicion and histopathologic confirmation of diagnosis in every patient presenting with a slowly enlarging erythematous or hypopigmented macule, especially when located on the face of an older woman with a light complexion.

Repeat direct immunofluorescence (DIF) test, using, 1 M NaCl treated skin, in the subepidermal autoimmune bullous diseases that contain IgG at the dermal epidermal junction.

Knowledge of autoimmune bullous diseases has greatly increased with the recognition of new entities, and the use of the direct immunofluorescence (DIF) using 1 molar per liter of sodium chloride (1 M NaCl) treated skin has been proposed. To estimate the frequency with which the different DIF patterns are present, we performed a systematic study of the skin or oral mucosa samples in which linear deposits of IgG at the basement membrane zone were detected by routine DIF in the last 6 years. The DIF tests were done on 56 samples before and after splitting the epidermis from the dermis with 1M NaCl. In 40 biopsies (72%) IgG was found on either the epidermal side or on both sides after 1M NaCl split. These cases corresponded to bullous pemphigoid (n=33), herpes gestationis (n=5) and cicatricial pemphigoid (n=2). In 6 cases (10.7%), IgG deposits were observed only on the floor, five corresponding to bullous pemphigoid and one to bullous pemphigoid-like eruption induced by amoxicillin. Repeat direct immunofluorescence using 1M NaCl split skin indicates that at least 12% of patients who were initially diagnosed as bullous pemphigoid, may in fact suffer a different entity, requiring other techniques to achieve the right diagnosis. This test can be a useful routine screening for autoimmune bullous diseases.

Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas.

We describe a 46-year-old woman with multiple symmetrical papulocystic lesions on the face, neck, chest, back, and upper arms since childhood. Vermiculate atrophoderma, entropion, and progressive loss of eyelashes was also noted. Since the age of 30, 12 basal cell carcinomas have developed on the face. Histopathologic examination revealed multiple anastomosing nests and strands that arose from the lower part of a hair follicle in early lesions. In more advanced lesions, multiple keratinizing microcysts within a moderately sclerotic stroma were noted in the upper and mid dermis. In some biopsy specimens, focal areas showing sweat gland (ductal) and sebaceous differentiation were also observed. Basal cell carcinomas developed from the basaloid component of the hamartomatous proliferation.

Kaposi's sarcoma in a patient with erythroblastopenia and thymoma: reactivation after topical corticosteroids.

We report a 69-year-old female with erythroblastopenia and thymoma who developed lesions of Kaposi's sarcoma (KS) after thymectomy, 2 months after the initiation of therapy with methylprednisolone. Control of mucocutaneous KS lesions was obtained with radiotherapy, interferon alfa-2b and withdrawal of systemic immunosuppressive therapy. Erosive oral lichen planus appeared later, and after therapy with topical corticosteroids a new lesion of KS developed that regressed after withdrawal of topical corticosteroids. The detection of HHV-8 only in lesional skin supports the hypothesis that this virus can trigger the development of KS lesions.

[Multiple and unilateral angiofibromas of the face: forme fruste of Bourneville tuberous sclerosis]. / Angiofibromes multiples et unilatéraux de la face: forme fruste de la sclérose tubéreuse de Bourneville.

BACKGROUND: Multiple facial angiofibromas are considered a characteristic and pathognomonic feature of tuberous sclerosis. In contrast, the observation of localized multiple angiofibromas limited to one side of the face is a uncommon. OBSERVATIONS: We cared for two patients with multiple clustered unilateral angiofibromas (although one patient also presented a few angiofibromas on the other side) without other features associated with the sclerosis tuberous complex. DISCUSSION: The possibility that these patients presented an independent disorder or a minor form of tuberous sclerosis is discussed.

Occurrence of hepoxilins and trioxilins in psoriatic lesions.

We recently found that normal human epidermis produces relatively high amounts of hepoxilins and trioxilins in vitro. Therefore, the aim of this study was to demonstrate the presence of these compounds in psoriatic lesions. Extracts from scales of patients with chronic stable plaque psoriasis were analyzed by a combination of high performance liquid chromatography and gas chromatography-mass spectrometry techniques. We found that the levels of hepoxilin B3 were more than 16-fold higher in psoriatic scales than in normal epidermis (3.2+/-2.3 and < 0.2 ng per mg, respectively), whereas hepoxilin A3 was not detected in any sample. Trioxilins were semiquantitated and referred to 12-hydroxyeicosatetraenoic acid, ratios of trioxilins A3 and B3 12-hydroxyeicosatetraenoic acid in psoriatic lesions were 0.65+/-0.23 and 0.32+/-0.28, respectively, and they were not detected in normal epidermis. The presence of a great amount of trioxilin A3 strongly suggests that hepoxilin A3 was present in psoriatic lesions and it was totally degraded to trioxilin A3 during the analysis procedure. Our results demonstrate that hepoxilins and trioxilins are produced by human skin in vivo and that the levels of these compounds are increased in psoriasis. The reported biologic activities of hepoxilins indicate that they could amplify and maintain the inflammatory response. Our results reinforce the idea that these compounds could play a role as mediators in the inflammatory response in skin, particularly in psoriasis.

Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations.

Brooke-Spiegler syndrome (BSS) is an autosomal dominantly inherited disease characterized by the development of multiple trichoepitheliomas and cylindromas. Other lesions have been reported to occur in patients with BSS, including parotid basal cell adenomas, milia, organoid nevi, basal cell carcinomas, and spiradenomas. Spiradenomas and cylindromas have so many features in common that they have been regarded as polar extremes belonging to a spectrum of cutaneous adnexal neoplasms. We report on a 61-year-old woman with multiple spiradenomas on the scalp and periauricular areas and her 28-year-old daughter, with multiple facial trichoepitheliomas. Occasional features of pilar and ductal differentiation were found in tissue specimens of tumors from the mother and daughter, respectively. Co-existence of multiple spiradenomas and trichoepitheliomas and segregation of the predominant type of tumor in different members of a family with BSS have been reported occasionally, but never, to our knowledge, in combination. The presence of mixed differentiation in tumor specimens from both patients provides additional evidence in support of the folliculosebaceous apocrine unit (FSAU) hypothesis. Mutations in genes regulating proliferation and differentiation of putative stem cells of the FSAU would give rise to different combinations of adnexal skin tumors as well as to other neoplasms.

Pityriasis lichenoides in children: clinicopathologic review of 22 patients.

Pityriasis lichenoides (PL) is a cutaneous disease of unknown origin, with an autoinvolutive course, that can occur in pediatric patients. Traditionally, acute and chronic variants have been described, but other special forms of presentation have been reported. We reviewed the clinical records and histopathologic specimens of all pediatric patients diagnosed with PL in our hospital from 1980 to 1995 to assess the clinicopathologic features of this disorder in our environment. Twenty-two of the 118 cases reviewed were pediatric patients less than 15 years old (12 males and 10 females, 18.6% of all patients). Their ages ranged from 3 to 15 years, with a mean of 9.3 years. Most of the patients (72%) had the chronic variant of the disease, while the remainder had an acute course. One patient suffered from acute ulceronecrotic PL. Systemic treatments prescribed were erythromycin in eight patients, PUVA in five patients, and methotrexate in one patient. Three patients had a prolonged course with more than two episodes. Acute and chronic PL are polar extremes, but individual cases cannot be classified only on the basis of histopathologic data, since coexistence of lesions in different stages of evolution can lead to sampling bias. Acute ulceronecrotic forms and the presence of a variable degree of cellular atypia in the infiltrate are liable to cause differential diagnostic problems with lymphomatoid papulosis (LP), which cannot be completely resolved on the basis of T-cell receptor clonal rearrangement detection.

[Mucocutaneous manifestations in acute HIV infection. 3 case reports]. / Manifestaciones mucocutáneas en la infección aguda por el VIH. Presentación de tres casos.

We report three patients who developed a generalized rash with oral, genital or perianal ulcerations as a result of acute infection due to HIV. The primary infection was diagnosed by seroconversion (by means of EIA and Western blot techniques). Definitive diagnosis was established on days 52, 85 and 97 after the appearance of the rash. The p24 protein of the HIV was only detected in the early phase of the disorder in the two cases in which this study was carried out.

Histopathological changes of primary HIV infection. Description of three cases and review of the literature.

The histopathological changes observed in the cutaneous rash of three patients who suffered the acute phase of HIV infection are described. In all three patients a perivascular and interstitial inflammatory infiltrate was present in the upper and mid-reticular dermis. In one biopsy isolated areas of epidermal necrosis were observed and in the two other biopsies a perifollicular inflammatory infiltrate was detected with perforation in one case. Furthermore, a periductal infiltrate was observed in one of these biopsies.

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).

[Hematologic deficiencies in patients with recurrent oral aphthae]. / Estudio de los déficit hematológicos en los enfermos afectados de aftas orales recidivantes.

BACKGROUND: The prevalence of iron, folic acid and vitamin B12 deficiencies and their role in the development of recurrent oral ulcerations is not well known. The aim of this study was to determine the prevalence of these deficiencies in our patients. PATIENTS AND METHODS: Iron, folic acid and vitamin B12 levels were studied in 80 patients with recurrent oral ulcerations (ROU) and the results were compared with a control group of 29 patients with different oral diseases. RESULTS: In the recurrent oral ulcers patients, deficiencies were detected in 21/80 patients (26.2%). In 18 cases they were pure: iron (4), folic acid (10) and vitamin B12 (4). In 3 patients, combined deficiencies were detected, being secondary to pernicious anaemia in two patients. In the control group, deficiencies were observed in 4/29 cases (13.7%). In three cases they were isolated (one case suffered from ferropenic anaemia and two patients of pernicious anaemia). CONCLUSIONS: Patients with recurrent oral ulcerations have more frequently iron, folic acid and vitamin B12 deficiencies than those with other diseases of oral mucosa. However, there were not significant differences when the frequency of deficiency of each one of such elements were taken into account separately.

Systemic lupus erythematosus presenting with red lunulae.

Red lunulae have been observed in association with a large spectrum of cutaneous and systemic diseases. We describe a 13-year-old girl with painful red lunulae of the fingernails who subsequently developed systemic lupus erythematosus. The appearance of Beau's lines suggested inflammation of the nail matrix. Oral prednisone produced significant improvement in the nail changes. To our knowledge, red lunulae have not been previously recognized as the presenting sign of systemic lupus erythematosus.

Detection of Mycobacterium tuberculosis DNA in lobular granulomatous panniculitis (erythema induratum-nodular vasculitis).

OBJECTIVE: To determine, using polymerase chain reaction (PCR) amplification, if Mycobacterium tuberculosis complex DNA is present in the skin biopsy specimens of lobular granulomatous panniculitis. DESIGN: A retrospective descriptive study. SETTING: A university-based hospital. PATIENTS: From the 65 patients included in the study, we examined 72 paraffin-embedded skin biopsy specimens with a histologic diagnosis of erythema induratum or nodular vasculitis. The biopsy specimens were from the histopathological archives of the Departments of Dermatology and Pathology of the Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, from 1976 to 1994. Twenty-two biopsy specimens were excluded from the final analysis because we could not amplify the internal control. MAIN OUTCOME MEASURES: Detection of a 123-base pair fragment of the IS6110 insertion sequence specific for M tuberculosis complex. RESULTS: The results of PCR amplification were positive for M tuberculosis complex DNA in 77% of the skin biopsy specimens. No significant difference could be detected with respect to the age of the patients, ulceration of the nodules, reactivity to purified protein derivative, abnormal results of a chest x-ray examination, personal and family history of tuberculosis, and PCR results. The presence and degree of necrosis on histologic examination were significantly higher in the PCR-positive group (P = .04). None of the following variables were associated with PCR results: presence of vasculitis, degree of granulomatous infiltrates, number of giant cells, and presence of well-organized granulomas. CONCLUSIONS: The DNA of M tuberculosis can be detected in a considerable number of skin biopsy specimens of lobular granulomatous panniculitis. None of the clinical and histologic variables evaluated could accurately predict the results of PCR amplification.

Masson's intravascular papillary endothelial hyperplasia mimicking Stewart-Treves syndrome: report of a case.

Masson's intravascular papillary endothelial hyperplasia, also called Masson's pseudoangiosarcoma, represents a benign vascular proliferation, presently considered as a peculiar histopathologic reaction pattern of the endothelium to diverse stimuli. Differentiation from angiosarcoma represents the main diagnostic concern. We report a case of Masson's intravascular papillary endothelial hyperplasia presenting in a 55-year-old woman with ipsilateral lymphedema secondary to surgery and radiation therapy for breast carcinoma. The diagnosis was intravascular papillary endothelial hyperplasia. This is the first description of Masson's pseudoangiosarcoma in this clinical context, to our knowledge. We believe it represents a peculiar morphologic pattern of endothelium proliferation secondary to venous stasis and thrombosis due to lymphedema.