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A 17-year-old woman had a sudden eruption of pustules in her intertriginous areas as well as of erythematosquamous plaques on the scalp, elbows, palms and soles in the third trimester of her first pregnancy. Histopathological evaluation of a biopsy revealed typical changes of pustular psoriasis with parakeratosis and abscesses of neutrophils (Kogoj’s spongiform pustules). The diagnosis of pustular psoriasis was established by the typical clinical and histopathological findings. Laboratory parameters showed a highly elevated blood sedimentation rate, hypoferric anemia and decreased albumin levels. Serum concentrations of parathormone and its metabolites were normal. After systemic treatment with glucocorticosteroids and antibiotics, the lesions improved but did not clear. After delivery of a healthy boy, therapy was switched to retinoid photochemotherapy with isotretinoin and PUVA that resulted in rapid and complete clearing of the eruption. The coincidence of plaque-type psoriasis and a pustular eruption as described previously in impetigo herpetiformis supports the view that this dermatosis of pregnancy is a variant of generalized pustular psoriasis.

A 64-year-old woman presented with bullous and ulcerating lichen sclerosus et atrophicus (LSA) on the neck, trunk, genital and perigenital area and the extremities. Histology of lesional skin showed the typical manifestations of LSA; in one of the biopsies spirochaetes were detected by silver staining. Despite treatment with four courses of ceftriaxone with or without methylprednisone for up to 20 days, progression of LSA was only stopped for a maximum of 1 year. Spirochaetes were isolated from skin cultures obtained from enlarging LSA lesions. These spirochaetes were identified as Borrelia afzelii by sodium dodecyl sulphate--polyacrylamide gel electrophoresis and polymerase chain reaction (PCR) analyses. However, serology for B. burgdorferi sensu lato was repeatedly negative. After one further 28-day course of ceftriaxone the lesions stopped expanding and sclerosis of the skin was diminished. At this time cultures for spirochaetes and PCR of lesional skin for B. afzelii DNA remained negative. These findings suggest a pathogenetic role for B. afzelii in the development of LSA and a beneficial effect of appropriate antibiotic treatment.

Juvenile hyaline fibromatosis (JHF) is inherited as a fatal autosomal recessive disorder characterised by multiple tumorous mucocutaneous proliferations. In this paper a 14 month old girl with JHF is described. For this condition, a malfunction of collagen synthesis is considered as the pathogenetic cause. Recently published data have revealed an absent band for type III collagen (TIIIC) chain in western blot studies of clinically unaffected JHF skin. Therefore supernatants of skin fibroblast cell cultures, obtained from normal human skin, were analysed for type I collagen (TIC) and TIIIC metabolites by radioimmunoassays. Besides the typical morphological connective tissue changes in the skin lesions, TIC synthesis and degradation were found increased in JHF fibroblasts compared with control fibroblasts. In contrast, TIIIC overall metabolism was significantly reduced by 36% compared with controls. (Arch Dis Child 1997;77:436-440) Keywords: juvenile hyaline fibromatosis; skin; collagen type I and type III metabolism Juvenile hyaline fibromatosis (JHF) is a rare disease characterised by tumorous skin lesions with the onset in early infancy, joint contractures, thickening of the gums, bone lesions, and tumorous involvement of internal organs. 1-11The skin lesions may vary in number and size and represent painful fleshy cutaneous papules, nodules, or tumours mainly located at the neck, elbows, knees, shins, and ankles. The condition is believed to be inherited as an autosomal recessive trait. Consanguinity of the parents has been reported in some of the sporadic cases. Recently, Kayashima et al have suggested JHF to be a connective tissue disorder characterised by increased synthesis of glycosaminoglycans (GAG) by fibroblasts and an impaired type VI collagen metabolism.12 In contrast, we demonstrated recently an absent type III collagen (TIIIC) chain in western blot studies of normal skin in this patient with JHF. Therefore we wanted to quantify the synthesis and degradation of type I collagen (TIC) and TIIIC of human skin fibroblasts in JHF. 13As all of the aVected sites predominantly contain TIC and TIIIC a deregulated metabolism of these collagens might be suspected. In the following paper we present findings that indicate an abnormality of these collagens in a JHF patient. Case reportThe family history on the mother's side is remarkable: her cousin is suVering from trisomy 21, her nephew shows hyperplasia of the gingiva. In some members of the mother's family contractures of the left hand's fourth finger were observed as individual symptoms (see family tree, fig 1). The parents themselves show no signs of any inherited disease. Both sisters of the patient are healthy. JHF was diagnosed by tumorous plaques on the lateral and medial aspects of the elbows, wrists, knees, and ankles (fig 2), gingival hyperplasia, and papillomatous anal proliferation, and by typical dermatohistopathological and ultrastructural findings.The patient died at the age of 14 months due to the progression of her disease complicat...

This series confirms PX as a rare, but distinguished clinicopathologic entity in the spectrum of n-LCH of the skin.

Juvenile hyaline fibromatosis is a rare disorder characterised by multiple subcutaneous tumours, gum hypertrophy, muscle weakness, and flexion contractures of the large joints. Histology shows an abundance of a homogenous, amorphous, acidophilic extracellular matrix in which spindle shaped cells are embedded forming minute streaks. It has been previously suggested that collagen abnormalities may be involved. A 14 month old girl with this syndrome is described in whom postmortem western blot studies were performed. These studies revealed an absent pro-a2(I) chain and an absent collagen type III chain in skin but not in the other organs examined. (Arch Dis Child 1995; 73: 246-248)

Brachial amyotrophic diplegia (BAD) is a subtype of sporadic lower motor neuron disease (LMND) presenting with adult onset, mainly in men, and remaining largely restricted to proximal arm and shoulder girdle muscles without involvement of the lower limbs or appearance of pyramidal signs. 1,2 Mutations in the copper/zinc superoxide dismutase (SOD1) gene have been described in familial cases of ALS and occurring in sporadic cases of ALS, [3][4] but not in patients with BAD. We describe here a patient with BAD syndrome associated with a novel SOD1 mutation.Case report. A 77-year-old man was referred to our clinic for a 12-month history of bilateral painless arm weakness and wasting.