A patient with Richner-Hanhart syndrome had thigh skin grafted onto her heel in an attempt to improve her walking. The graft seemed to be spared by the hyperkeratosis that arrested at the periphery of the graft and formed a keratotic wall. A low-tyrosine, low-phenylalanine diet was effective in clearing hyperkeratosis.

The glucagonoma syndrome is a rare clinical condition. In this syndrome there is a pancreatic islet cell tumour which secretes glucagon, associated with a distinctive skin eruption--migratory necrolytic erythema. We describe a 79 year old Chinese man who presented with the typical skin features of this condition and on investigation ...

Epidermal nevus syndrome is defined as a combination of nevoid skin alterations, epileptic seizures, and psychomotoric retardation. Involvement of other organs, especially the eyes, may also occur, but is not obligatory. The present report is concerned with a case that combined regional odontodysplasia with nevoid skin alterations in the overlying ...

A newborn female infant suddenly developed a generalized gray-brown discoloration of her skin while receiving phototherapy for hyperbilirubinemia. The discoloration waned over the succeeding weeks. Her serum contained an unknown pigment that had a characteristic absorbance on spectrophotometry. The distinctive findings and some possible causes of the bronze baby syndrome ...

Bullous mastocytosis (diffuse cutaneous mastocytosis) is a rare form of mast cell disease that begins during the first month of life and causes extensive blisters that mimic scalded skin syndrome or bullous erythema multiforme. Discrete pigmented macules, papules, and nodules are absent and the characteristic leathery induration of skin may ...

N-Acetylglucosamine-6-sulfate sulfatase activity was assayed by incubation of the radiolabeled monosaccharide N-acetylglucosamine [1-14C]6-sulfate (GlcNAc6S) with homogenates of leukocytes and cultured skin fibroblasts and concentrates of urine derived from normal individuals, patients affected with N-acetylglucosamine-6-sulfate sulfatase deficiency (Sanfilippo D syndrome, mucopolysaccharidosis type IIID), and patients affected with other mucopolysaccharidoses. The assay ...

Histopathological studies were conducted on skin biopsies of 4 patients with the reticular erythematous mucinosis (REM) syndrome. The diagnosis was made on the basis of the clinical picture in 3 of the cases and from histological characteristics in the 4th. These morphological studies were done parallel with a study of ...

Carotidynia is a common but seldom recognized syndrome in which the patient typically complains of a sore throat. Closer questioning usually reveals the soreness to be in the neck. On physical examination, tenderness is noted along a localized segment of the carotid artery. Often the syndrome is misdiagnosed as cervical ...

Eosinophilic Fasciitis is a syndrome characterized by exertion related scleroderma-like skin changes, peripheral eosinophilia, hypergammaglobulinemia and diffuse faciitis. Controversy exists as to the precise classification of the syndrome, i.e., whether it is a distinct entity or a variant of scleroderma. We describe a patient with eosinophilic faciitis but with several ...

An indirect immunofluorescence assay using formalin-fixed paraffin-embedded skin was performed on six biopsies from four patients with eosinophilic cellulitis (Wells' syndrome) to determine the extracellular localization of eosinophil granule major basic protein (MBP). Serial sections from each biopsy were treated with either affinity chromatography-purified antihuman-MBP or staphylococcal protein A purified ...

A patient is described who had polymyositis with arthritis, keratodermia blenorrhagica, pulmonary fibrosis, and cardiac failure with a right bundle branch block. The cutaneous lesions on his palms and soles, considered to be specific for Reiter's syndrome, pointed to an overlapping of polymyositis with features of this syndrome. Findings typical ...

The gradual recognition of dermopathic strains of Staphyloccus aureus, which cause staphylococcal impetigo, pemphigus neonatorum, Ritter's disease, and what was originally called staphylococcal toxic epidermal necrolysis, is described. Obstacles delaying their recognition included an entrenched belief that staphylococci should produce pus, the striking dissimilarity of their main clinical effects (impetigo ...

A 41-year-old man died of meningococcemia after presenting with skin rash, fever, and bradycardia. Electrocardiograms demonstrated intermittent complete heart block, and necropsy showed myocarditis with focal necrosis of the conduction system. This syndrome should be recognized as typical for meningococcemia, and all patients with meningococcal disease should be observed carefully ...

The diagnosis of staphylococcal scalded skin syndrome is usually made upon the bases of characteristic skin lesions and the isolation of toxin-producing staphylococci. However, these criteria are not always reliable. An adult patient with characteristic skin lesions was colonized with phage group 2 staphylococci. The patient was subsequently found to ...

Previous reports have shown that alterations in cutaneous and plasmatic fibrinolytic activity are found in cutaneous necrotizing vasculitis (CNV). In a combined investigation with direct immunofluorescence and autohistographic evaluation of tissue fibrinolytic activity in the lesional skin of 20 subjects affected by Schonlein-Henoch (SH) syndrome, there was a marked decrease ...

The level of heat-labile glucose-6-phosphate dehydrogenase (G6PD) has been measured in skin fibroblast cultures from premature ageing or DNA repair deficient genetic syndromes. The short in vitro longevity of Werner's syndrome, progeria, Cockayne's syndrome, ataxia telangiectasia, Fanconi's anaemia, and Bloom's syndrome cultures was correlated with the appearance of a significant ...

Nine patients with Prader-Willi syndrome (five female and four male; one Oriental and eight white), all of whom had interstitial deletions of the proximal long arm of one chromosome 15 (q11-q13) were found to have decreased tyrosinase activity in isolated hair bulbs. As infants, all patients had light hair and ...

We have prepared a new substrate (o-beta-D-sulfo-galactosyl-(1-4)-beta-D-6-sulfo-2-acetamido-2-deoxyglucosyl- (1-4)-D-[1-3H]galactitol), from shark cartilage keratan sulfate, for the assay of galactose 6-sulfate sulfatase activity. Using this substrate, we found there was a striking deficiency of galactose 6-sulfate sulfatase activity, in addition to the known deficiency of N-acetylgalactosamine 6-sulfate sulfatase, in the cultured skin ...

A 48-year-old woman had a variation of the syndrome of polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (the so-called POEMS syndrome). The patient's neurological findings were entirely normal, but she had splenomegaly, hyperprolactinemia with galactorrhea and oligomenorrhea, a thyroid nodule with evidence of mild thyroiditis on aspiration biopsy specimen, ...

"Purple toes" syndrome and a generalized skin eruption developed in a 73-year-old woman who was taking warfarin sodium (Coumadin) as well as antiarrhythmic agents after a stroke. Both the rash and the discoloration of her feet were apparently related to use of warfarin and gradually resolved after discontinuation of the ...

The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light and electron microscopy. Incubation of hairbulbs and epidermis in 1-dopa revealed a weak tyrosinase activity. The epidermal melanocyte population was of normal density. The most striking feature was the presence of numerous giant melanosomes resembling ...

Werner's syndrome is an autosomal recessive disease characterized by juvenile cataracts, scleroderma-like skin changes, and a high incidence of neoplasms. A 57-year-old man had Werner's syndrome associated with a fibrosarcoma of the mediastinum and multiple basal cell epitheliomas. In two of these basal cell epitheliomas, since the sclerotic skin made ...

A patient developed concomitantly chondritis of the two auricles, diffuse cutaneous vasculitis and actinic granulomas. Alterations in skin and cartilage were prominent in the elastic tissue. Anticollagen type II antibodies were absent from the serum and there was no deposit of immunoreactants in cartilages. In this form of relapsing polychondritis, ...

Arotinoids are a new class of retinoids with particular biological properties. Arotinoid Ro 13-6298 in minute quantities leads to regression of chemically induced papillomas of the skin of mice. The ratio between the antipapilloma effect and the toxic syndrome of hypervitaminosis A is very favorable. Ro 13-6298 also has a ...

A 4-year-old boy with skin symptoms resembling verruca plana juvenile was observed. The light- and electron-microscopic picture showed the typical features of histiocytosis X (Letterer-Siwe syndrome). Beside the skin manifestations some less dense areas in the skull bones were found by X-ray examination. Vinblastine and prednisolone treatment for one year ...

Three siblings in a Jordanian family presented with a distinctive syndrome consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. Sural nerve biopsy revealed axonal degeneration and skin biopsy showed abnormal epidermal pigmentation. Skin fibroblast repair studies were normal. No underlying biochemical defect has been found ...

Job's syndrome is characterized by the clinical features of fair skin, red hair, recurrent cold staphylococcal skin abscesses with concurrent other bacterial infections and skin lesions. This case report chronicles a classic presentation of Job's syndrome. A brief review of the otolaryngological presentations of immune deficiencies is presented. Other than ...

A new syndrome has been described comprising polyneuropathy, oedema, hyperpigmentation and thickening of the skin, gynaecomastia in males and amenorrhoea in females, monoclonal gammopathy, papilloedema and diabetes. There is frequent osteosclerosis with or without plasmacytoma, hepatosplenomegaly and polycythaemia. There is a good response to corticosteroids, immunosuppressive drugs and occasionally to ...

Osteopathia striata and a macular, hyperpigmented dermopathy were found in a Caucasian woman and her two daughters. Sequential radiographs in one daughter showed that the bone lesions were not present during infancy but developed during early childhood. The skin lesions were not those most often associated with osteopathia striata, but ...

A 3-week-old infant had neonatal ophthalmia neonatorum, treated in a routine manner which rapidly developed into an advanced case of staphylococcal scalded skin syndrome. The infant had sudden onset of widespread erythematous and tender areas of skin with subsequent exfoliation of large surface areas. We emphasize the recognition of this ...

Hyperpigmented skin from a 10-year-old white boy with ichthyosis nigricans has been studied. Histological and ultrastructural studies reveal that the hyperpigmentation is related to both epidermal and dermal hypermelanosis. Melanocytes are hyperactive. The different stages of melanosome synthesis and melanisation appear to be normal. Increased dermal pigmentation probably results from ...

Experiments both in vitro and in vivo have been performed to study the chemotactic response of polymorphonuclear leucocytes (PMNs) in Behçet's syndrome. The experimental results were apparently contradictory. Using modified Boyden chambers we found that the PMNs from patients with Behçet's syndrome responded to a greater extent in vitro than ...

An elderly man with Hodgkin's disease who was receiving multiple drug chemotherapy became septic and a wide spread bullous eruption developed. Intraepidermal cleavage on skin biopsy supported a diagnosis of the staphylococcal scalded skin syndrome (SSSS) type of toxic epidermal necrolysis. Blood cultures confirmed a staphylococcal septicemia. Occurrence of this ...

We have followed up the evolution of a polyfibromatosis syndrome in a 20-year-old male treated with diphenylhydantoin for epileptic convulsions. The main symptoms were attributable to fibrosis of the adventitial dermis associated with camptodactyly, knuckle pads, tendinous calcification, osseous hypoplasia of the face, scoliosis with thoracic deformation, and osteolytic changes ...

The glucagonoma syndrome is another of those systemic disorders in which skin manifestations provide a clue to the diagnosis. The patient will most often be a middle-aged woman who has the characteristic, indolent skin lesions in the face of diabetes mellitus and additional features to suggest an occult carcinoma. Marked ...

Skin, iliac crest cartilage and tendon of a patient affected with Larsen's syndrome were subjected to biochemical and ultrastructural investigation. A substantial increase in the ratio of glucosamine to galactosamine was found both in skin and cartilage. Ultrastructural abnormalities of collagen fibres and proteoglycan filaments were also found in Larsen's ...

In this paper two patients with uncommon syndromes, viz. acrodermatitis enteropathica-like eruption due to acute zinc deficiency, when on long-term intravenous hyperalimentation for Crohn's disease, and necrolytic migratory erythema as a consequence of a malignant glucagon secreting alpha-cell tumour of the pancreas (glucagonoma syndrome) are reported. Attention is paid to ...

Epidermolysis bullosa hereditaria letalis (Herlitz) rarely appears with all the clinical characteristics originally described as belonging to the syndrome. Besides the blistering of the skin and mucous membranes in the oral cavity, the case presented showed dystrophic nails, congenital localized skin defects with hypoplasia of underlying structures and a rare ...

This report deals with a 26-year-old white woman exhibiting signs of both Kwashiorkor (marasmus, pallor, hypopigmentation of hair and hepatomegaly) and acrodermatitis enteropathica (eczematous dermatitis predominantly on acral areas). Clinical and laboratory examinations excluded malabsorption syndrome and glucagonoma syndrome and revealed hypoproteinemia and marked zinc deficiency. Psychiatric examination disclosed anorexia ...

Outbreaks of myxomatosis during the winter or spring have coincided with the establishment of the European rabbit flea in the Mallee region. The severity of these outbreaks has varied from causing complete suppression of the normal spring increase in rabbit numbers to being completely ineffective in a year in which ...

Numerous complications have been reported as a result of neonatal circumcision. We describe here three cases of staphylococcal scalded skin syndrome that were thought to be due to infected circumcisions. A review of the literature failed to disclose descriptions of staphylococcal scalded skin syndrome as such a complication. In spite ...

The occurrence of massive skin necrosis of approximately 50% of the body surface area in an 8-year-old girl with Rocky Mountain spotted fever is reported. Although the surgeon will not often be confronted with the management of Rocky Mountain spotted fever or its complications, certain therapeutic corollaries can be outlined, ...

A congenital syndrome affecting the skin, oral mucosa and bulbar conjunctiva is reported in father and son. Skin lesions consisted of brownish papules with central keratotic plugs. Trauma was able to provoke lesions. In addition, changes of oral mucosa with premature loss of the teeth, and recurrent eye symptoms with ...

Congenital hypomelanotic and hypermelanotic macules traced in three generations of a family suggested autosomal dominant inheritance. Some affected membbers also showed retarded growth and mental deficiency. Light microscopic findings of "splitdopa" preparations of lesional and normal skin were comparable, except that background staining of keratinocytes in dark macules was higher ...

An invisible dermatosis is defined as a skin disease manifesting no clinically apparent lesion but histologic changes of a characteristic nature. An example of an invisible form of transient acantholytic dermatosis is presented. Invisible forms of pseudoxanthoma elasticum, sarcoidosis, lepromatous leprosy, and lichen planus are reviewed. Dermal deposits may also ...

An increase of soluble fractions of collagen and a decrease of insoluble ones was found in the skin of guinea pigs with collagen disease-like syndrome, produced by prolonged treatment with hydralazine. Chromatography studies showed that the collagen alpha chains content in the skin increased and beta-chains decreased under conditions of ...

Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. Iris transillumination and hypopigmentation of the fundus were present and ...

Analysis of DNA fiber autoradiograms from Bloom's syndrome skin fibroblasts and blood lymphocytes shows a retarded rate of replication fork movement compared to normal adult controls. Other measurements from the autoradiograms--replication unit length, incidence of bidirectional replication, and degree of initiation synchrony--are normal in Bloom's syndrome cells. These results suggest ...

Sixteen patients from seven different families with the Buschke-Ollendorff syndrome have been studied. Osteopoikilosis was found in two-thirds of the patients radiologically examined and all but two had skin involvement. The predominant clinical pattern consisted of grouped skin coloured papules and discs that were distributed asymmetrically and which usually had ...

Two male children are reported with similar features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this ...