Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.

We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased fertility (D), and short stature (S). The clinical findings fit into the PIBI(D)S syndrome and trichothiodystrophy. A remarkable and probably unique observation for this disorder was the intermittent character of the scalp hair loss during infectious periods in this patient. Easy suntanning suggested photosensitivity and prompted DNA repair studies which demonstrated reduced UV-induced DNA repair synthesis. Subsequent studies have assigned this patient to xeroderma pigmentosum group D and suggested a specific deficiency of 6-4 photoproduct repair. An unaffected child was diagnosed in the next pregnancy of the mother.

Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group.

BACKGROUND AND DESIGN: The hyperimmunoglobulinemia D (hyper-IgD) syndrome is characterized by recurrent febrile attacks with abdominal distress, headache, and arthralgias. Physical examination reveals cervical lymphadenopathy in most cases and, sometimes, splenomegaly. Skin lesions have been observed in isolated cases during attacks. We summarize the features of skin lesions and the histopathologic findings in biopsy specimens in the hyper-IgD syndrome. RESULTS: A total of 44 patients with the hyper-IgD syndrome were studied. Thirty-five (79%) of them, 19 males and 16 females, had skin lesions during febrile attacks. Erythematous macules were the most common cutaneous manifestation (15 cases), followed by erythematous papules (12 cases); urticarial lesions (nine cases) and erythematous nodules (seven cases). Skin biopsy specimens of 10 patients with the hyper-IgD syndrome were available for review. The findings varied considerably. Most biopsy specimens showed mild features of vasculitis. Nonspecific findings were noted in five biopsy specimens; Sweet-like features in two, cellulitis-like findings in one, and deep vasculitis characteristics in one. CONCLUSIONS: Skin lesions are common in the hyper-IgD syndrome suggesting that they are a true manifestation of the disease.

Determination of the photoprotective efficacy of a topical sunscreen against UVB-induced DNA damage in human epidermis.

The ability of a chemical sunscreen with a sun protection factor of ten to protect human skin in situ against UVB-induced DNA damage (cyclobutyl thymine dimers) was evaluated. Biopsies were taken from the left buttock of ten human volunteers prior to UVB (280-315 nm) exposure. Subsequently, a sunscreen (n = 6) or vehicle (n = 4) was applied to a delineated area on the right buttock. After a period of 30 min, the entire buttock area was irradiated in a UVB cabin with one minimal erythema dose. Immediately after irradiation, biopsy specimens were obtained from the UVB-exposed sunscreen- or vehicle-treated right buttock and from the non-treated UVB-exposed left buttock. Dimers were assayed in skin sections by immunofluorescence microscopy with a monoclonal antibody against the cyclobutyl thymine dimer. The dimer-specific fluorescence from the epidermal cell nuclei, identified by counterstaining with propidium iodide, was quantified through computer-mediated image processing and analysis in skin sections of one sunscreen-treated and one vehicle-treated volunteer. After a single dose of UVB, significant dimer-specific nuclear fluorescence was observed and measured in the non-treated biopsy specimens. No nuclear fluorescence was observed and very little could be measured in the non-UVB-exposed skin and in the sunscreen-treated UVB-exposed skin respectively, indicating that the sunscreen offered good protection against the induction of cyclobutyl thymine dimers by UVB. This visual scoring is in general semiquantitative, but quantification through computer-mediated image processing was performed in one case for sunscreen-treated skin and in one case for vehicle-treated skin. Both assessments resulted in similar conclusions.(ABSTRACT TRUNCATED AT 250 WORDS)

Minimising the risks of PUVA treatment.

Psoralen photochemotherapy (PUVA) is a combination of orally administered psoralen and long wave ultraviolet-A radiation (UVA), and is one of the most effective forms of therapy for psoriasis. The unwanted effects of PUVA therapy can be divided into short and long term adverse effects. The short term adverse effects include erythema, pruritus, nausea and headache. While short term adverse effects are limited and reversible after discontinuation of treatment, potential long term adverse effects such as chronic actinic skin damage, dyskeratotic and precancerous skin conditions, nonmelanoma skin cancer, immunological alterations and cataract formation are of greater concern. Long term risks associated with PUVA therapy can be minimised by several measures. Careful patient selection is mandatory; for example, patients with chronic actinic damage and a history of skin cancer may bear a higher risk for the development of new cancers, and previous arsenic intake and ionising radiation also increase the risk of nonmelanoma skin cancers. Certain drug combinations make it possible to lower the UVA dose, which is important because of the dose-dependent increase in the incidence of squamous cell carcinomas in patients treated with PUVA. It has been demonstrated that 200 treatments or a total UVA dose of 1200 J/cm2 seems to be the threshold for development of nonmelanoma skin cancer. Shielding male genitalia during PUVA treatment is essential because of the increased risk of genital squamous cell carcinomas. Yearly dermatological examination to detect skin cancer at an early stage is highly advisable. Sunscreen use, protective clothing and avoidance of sun exposure reduce the uncontrolled dose of solar UV radiation. Other psoralens with a less carcinogenic potential can be used. UVA-opaque sunglasses during the entire period of increased photosensitivity after psoralen ingestion help avoid cataract formation. Assignment to PUVA ought to be based on the risk-benefit ratio for the individual patient and should be limited to those who can be monitored and controlled by informed, competent and conscientious physicians.

Cutaneous immunofluorescence in ankylosing spondylitis. Absence of correlation with disease activity.

Biopsy specimens of normal skin from 43 patients with ankylosing spondylitis (AS) were studied for immunoglobulin and complement deposition by immunofluorescence and for histological abnormalities by light microscopy. The results were compared with those of 17 healthy subjects. Perivascular deposits of IgA, IgG, IgM and C3 were found in 26, 47, 56 and 33%, respectively, of the patients with AS. Skin deposits of IgA, IgG and C3 occurred significantly more frequently in patients with AS compared to healthy subjects. Perivascular mononuclear cell infiltration was found in only 8 (19%) of the patients with AS. The results of both immunofluorescence and histologic studies did not correlate with disease duration, disease activity, extraarticular features or the presence of circulating immune complexes. Our findings suggest a role of humoral immunopathological mechanisms in AS but also show that cutaneous immunofluorescence cannot serve as a marker of disease activity.