A case of trichorhinophalangeal syndrome, type I.

A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature.

[Eosinophilic pustular folliculitis. Description of a clinical case treated with PUVA therapy]. / Follicolite pustolosa ad eosinofili. Descrizione di un caso clinico trattato con PUVA-terapia.

We report the case of a 62 years-old Italian man affected by crops of pruritic follicular sterile papulo-pustules on the face, trunk and arms. Histopathologic examination revealed a perifollicular inflammatory cell infiltrate composed mostly of eosinophils. These features are characteristic of eosinophilic pustular folliculitis. There is not any uniformly effective treatment for this condition. In our patient the disease did not respond to dapsone, H1 antihistamines and indomethacin. Oral corticosteroids gave good results but were unsuitable for their side effects. The response to PUVA therapy was excellent. In our opinion PUVA therapy is a highly effective and safety treatment for EPF.

[Van der Woude syndrome]. / Sindrome di Van der Woude.

The familial occurrence of lower lip pits (fistulae, sinuses) with or without the cheilo-gnathouranoschisis complex (cleft lip and/or cleft palate) was first described by A. Van der Woude in 1954. The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable. Sometimes there may be microforms with only conical elevation and/or surface openings without any deeper sinuses at the typical sites and without cleft lip/palate. We examined 8 members of an Italian family and we observed one member with lip pits and submucous cleft palate and 4 members with only lip pits. Three of these affected members had congenital absence of second premolars too. The presentation, mode of inheritance, aetiology and genetic significance of lip pits syndrome are reviewed. In our opinion this is the first Italian report of the Van der Woude syndrome.

[Proposal for a therapeutic protocol in Crosti lymphoma]. / Proposta di protocollo terapeutico nel linfoma di Crosti.

Three patients with Crosti's lymphoma were treated with radiotherapy using electron accelerators. The energy radiations ranged from 5 to 9 Mev. with large fields. The total dose was 40 Gy, delivered in 2 Gy fractions daily. The treatment lasted four weeks. No side effects were reported and no recurrence was remarked after 24 months.

[Immunohistochemical study of porokeratosis in kidney transplantation]. / Studio immunoistochimico della porocheratosi in trapiantati renali.

Six cases of disseminated actinic superficial porokeratosis are reported in kidney transplant recipients. Immunohistochemistry study showed an altered state of Langerhans cell surface markers at the level of the cutaneous lesions of porokeratosis. We can hypothesize that the alterate state of epidermal dendritic cells in porokeratosis contributes to the development of abnormal clones of keratinocytes.

[Sweet syndrome. Description of 12 cases]. / Sindrome di Sweet. Descrizione di 12 casi.

The clinical course of 12 patients (5 males, 7 females) with Sweet's syndrome is described. Clinical and histological features and the dramatic response to corticosteroids were suggestive of Sweet's syndrome. Four patients experience recurrences in previously involved sites, controlled with administration of prednisone. In no cases the dermatosis was associated with systemic diseases.

Immunomorphological analysis of the role of blood vessel endothelium in the morphogenesis of cutaneous Kaposi's sarcoma: a study of 57 cases.

In this study we report the histopathological features in a series of 88 biopsies from patients with cutaneous Kaposi's sarcoma; immunohistochemical examination for Factor VIII related antigen has been carried out on frozen and paraffin-embedded sections. The patient groups comprised 50 elderly patients, seven of whom were immuno-compromised, six patients with AIDS and one patient who had received a renal allograft. The findings were similar in these three groups. Histological staging was carried out with subdivision into stage I--patches characterized by angiomatoid and glomeruloid structures; stage II--plaques characterized by confluence of angiomatoid and glomeruloid structures and with spindle cells; and stage III--nodules in which the spindle cells were proliferative and frankly sarcomatous. Factor VIII related antigen was demonstrated in the central vessels of glomeruloid lesions whilst the surrounding vascular network contained both antigen-negative and antigen-positive vessels; in stage II and III lesions the spindle cells were consistently positive only in frozen section material. The findings were similar in the three patient groups. Our results suggest that Kaposi's sarcoma evolves from stage I through to stage III, that both blood vessels and lymphatic vessels are involved in the vascular proliferation and that the spindle cells are derived from vascular endothelium.