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PubMed1990

Cutaneous lymphohistiocytic infiltrates in patients with hypogammaglobulinemia.

Six patients (5 to 15 years of age) with hypogammaglobulinemia had scattered papular lesions in association with widespread dermatitis. These disfiguring lesions were a portal of entry for secondary infections and led to social withdrawal. Biopsy specimens from the papules demonstrated dense lymphohistiocytic infiltrate limited to the dermis. Infectious causes (bacterial, fungal, and viral) were excluded. The skin lesions failed to respond to conventional treatment, including topical corticosteroids. Replacement therapy with monthly infusions of high doses of immune serum globulin resulted in gradual improvement and ultimate clearing of the lesions. This unusual skin abnormality, which is unresponsive to traditional treatment, may provide the earliest clue to the presence of hypogammaglobulinemia.

Adolescent↗
PubMed1977

The association of familial liver disease, subepidermal immunoproteins, and membranoproliferative glomerulonephritis.

Herein we report a new familial form of hepatic disease. Each of the four patients had splenomegaly, hypersplenism, a small liver, biochemical evidence of hepatic excretory dysfunction and hepatocellular damage, kidneys without demonstrable cysts, and normal blood pressue. An evaluation of serum immunoproteins, autoantibodies, histocompatibility antigens, and mixed lymphocyte reactivity further defined the immunologic features of this syndrome. Extrahepatic manifestations included a papulosquamous dermatitis with deposition of immunoglobulins and complement in both normal and abnormal skin, a membranoproliferative glomerulonephritis with subendothelial deposits, arthritis, and pericardial, pleural, and synovial effusions.

Adolescent↗
PubMed2003

Gemcitabine-induced radiation recall dermatitis following whole pelvic radiation therapy.

OBJECTIVES: Radiation recall dermatitis secondary to gemcitabine use has been reported in isolated cases of patients treated for breast and lung cancers. There have been no reports of radiation recall dermatitis from gemcitabine after whole pelvic radiation therapy employed as a treatment of a gynecologic cancer. CASE: A 67-year-old woman was treated with whole pelvic radiation for palliation of lower extremity swelling and pain due to recurrent ovarian adenocarcinoma. Three months later, the patient was treated with gemcitabine for three courses. Therapy was discontinued secondary to severe cellulitis and edema of the skin of the anterior abdominal wall in the field of her prior radiation therapy. CONCLUSIONS: Radiation recall dermatitis secondary to gemcitabine should be considered in any patient with pelvic or lower abdominal skin abnormalities after pelvic radiation and subsequent gemcitabine therapy.

Adenocarcinoma↗
PubMed2006

Clinical recognition of meningococcal disease in children and adolescents.

BACKGROUND: Meningococcal disease is a rapidly progressive childhood infection of global importance. To our knowledge, no systematic quantitative research exists into the occurrence of symptoms before admission to hospital. METHODS: Data were obtained from questionnaires answered by parents and from primary-care records for the course of illness before admission to hospital in 448 children (103 fatal, 345 non-fatal), aged 16 years or younger, with meningococcal disease. In 373 cases, diagnosis was confirmed with microbiological techniques. The rest of the children were included because they had a purpuric rash, and either meningitis or evidence of septicaemic shock. Results were standardised to UK case-fatality rates. FINDINGS: The time-window for clinical diagnosis was narrow. Most children had only non-specific symptoms in the first 4-6 h, but were close to death by 24 h. Only 165 (51%) children were sent to hospital after the first consultation. The classic features of haemorrhagic rash, meningism, and impaired consciousness developed late (median onset 13-22 h). By contrast, 72% of children had early symptoms of sepsis (leg pains, cold hands and feet, abnormal skin colour) that first developed at a median time of 8 h, much earlier than the median time to hospital admission of 19 h. INTERPRETATION: Classic clinical features of meningococcal disease appear late in the illness. Recognising early symptoms of sepsis could increase the proportion of children identified by primary-care clinicians and shorten the time to hospital admission. The framework within which meningococcal disease is diagnosed should be changed to emphasise identification of these early symptoms by parents and clinicians.

Adolescent↗
PubMed1981

Effect of treatment with sodium valproate and diazepam on plasma corticotropin in Nelson's syndrome.

Six patients with Nelson's syndrome were given sodium valproate with or without diazepam for 3 or 5 weeks. Initial high plasma adrenocorticotropic hormone (ACTH) concentrations were greatly reduced by treatment and returned to high levels when treatment was stopped. Diazepam did not add significantly to the effects of sodium valproate alone. Three patients reported a decrease in the severity and frequency of headaches while on sodium valproate. In five patients abnormal skin pigmentation was reduced. Sodium valproate is a gamma-aminobutyric acid (GABA) transaminase inhibitor and it is suggested that the drug raises GABA levels in the hypothalamus and that this is responsible for the reduction in ACTH secretion. The data are consistent with the hypothesis that Nelson's syndrome is a neuroendocrine disease caused by a deficiency in the hypothalamic GABA-ergic system.

Adrenocorticotropic Hormone↗
PubMed2003

IL-10 subfamily members: IL-19, IL-20, IL-22, IL-24 and IL-26.

It has been reported that the CD4+ T cell is a very important source of interleukin 10 (IL-10), while CD8+ cells produce low amounts. IL-10 exerts several immune stimulating, as well as inhibitory effects. There are at least five novel human IL-10 family-related molecules: IL-19, IL-20, IL-22, IL-24, and IL-26. Activated T cells produce IL-19, IL-22 and IL-26, while IL-24 is produced by activated monocytes and T-cells. IL-20 induces cheratin proliferation and Stat-3 signal transduction pathway, while IL-22 induces acute-phase production by hepatocytes and neonatal lethality with skin abnormalities reminiscent of psoriasic lesions in humans. In addition, IL-22 mediates inflammation and binds class II cytokine receptor heterodimers IL-22 RA1/CRF2-4. This cytokine is also involved in immuno-regulatory responses. IL-26 (AK155) is a novel cytokine generated by memory cells and is involved in the transformed phenotype of human T cells after infection by herpes virus. All these new IL-10 subfamily member cytokines are strongly involved in immune regulation and inflammatory responses.

Animals↗
PubMed1996

Osteosclerotic myeloma and 'POEMS' syndrome.

Metabolic bone disease is a major cause of morbidity and mortality in patients suffering from multiple myeloma. This usually results from an imbalance between the osteoclast and osteoblast activity of bone resorption and formation due to the secretion of an osteoclast-activating factor by the myeloma cells. This generally takes the form of lytic lesions, hypercalcaemia and osteoporosis but, in a minority of patients, osteosclerosis is a striking feature. In a proportion of patients with gammopathy and the osteosclerotic form of the disease, there appears to be an association with other symptom complexes including Polyneuropathy, organomegaly, endocrine changes, and skin abnormalities. This article summarizes the clinical, radiological and laboratory features of this syndrome, which is known by the acronym 'POEMS'. It is important to recognize this condition, as it carries a better prognosis than the more common lytic form of the disease and because vincristine, and agents frequently used to treat this condition, may severely exacerbate the neuropathy and should be avoided. This syndrome is also important because it may give some insight into the pathophysiology of the plasma-cell dyscrasias.

Humans↗
PubMed2002

[Physiopathology and curative treatment of meningococcal diseases: current aspects].

Early administration of antibiotics as soon as the diagnosis of meningococcemia has been evoked is a significant therapeutic advance. However, the poor outcome of these diseases whose mortality remains high despite the current techniques of reanimation shows that improving the vaccination against meningococci is still of actuality. Diagnosing rapidly severe meningococcal disease is also a means for acting against the pathological activation of the inflammatory and coagulation pathways. Significant advances have been made in understanding the physiopathology of the meningococcal purpura fulminans especially about the deleterious role of the deficiency of the protein C and the antithrombin III. It is too soon to advance that the prognosis of these diseases has been improved by these new therapeutic approaches but the results of preliminary clinical studies are encouraging. However, informing parents about the first skin abnormalities seen in infants with purpura fulminans is essential in attempt to improve the efficiency of these new therapeutic strategies.

Anti-Bacterial Agents↗
PubMed1999

Neglect-like symptoms in complex regional pain syndrome: results of a self-administered survey.

Reflex sympathetic dystrophy (RSD), recently reclassified as a complex regional pain syndrome, type I (CRPS-I), is best known for its disabling sensory symptoms, including pain, allodynia, and abnormal skin temperature. Yet, motor dysfunction is common in CRPS and can result in major disability. In addition to weakness of the involved limb, CRPS patients may develop symptoms akin to a neurological neglect-like syndrome, whereby the limb may feel foreign ("cognitive neglect") and directed mental and visual attention is needed to move the limb ("motor neglect"). Members of the patient support group, the Reflex Sympathetic Dystrophy Syndrome Association (RSDSA), were mailed a questionnaire inserted in their newsletter which inquired about the presence of these neglect-like symptoms; in addition, a separate medical history questionnaire was included to assess adequate documentation for the diagnosis of CRPS. A total of 242 patients returned the questionnaire but only 224 of the questionnaires were analyzed; 15 were excluded due to inadequate documentation of CRPS and 3 were excluded due to non-limb involvement. Eighty-four percent (84%) of these respondents endorsed the presence of at least one neglect symptom and 47% indicated they had both "cognitive" and "motor" neglect symptoms. Of interest, approximately 33% of respondents spontaneously wrote comments regarding the significant disability due to these neglect symptoms and the difficulty explaining these unusual symptoms to their health care providers and family. This patient survey confirms the presence of neglect-like symptoms in a subset of CRPS patients. Neglect-like symptoms need to be addressed and validated by health care providers.

Adult↗
PubMed2003

Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.

Loricrin is the major protein of the cornified cell envelope, a structure that replaces the plasma membrane during keratinocyte terminal differentiation. Recently, unique heterozygous, insertion mutations in the loricrin gene have been found to underlie certain congenital skin abnormalities, the phenotypes of which vary considerably. Clinically, these patients can be diagnosed as suffering from an ichthyotic variant of Vohwinkel's syndrome (VS), progressive symmetric erythrokeratoderma, or congenital ichthyosiform erythroderma born as a collodion baby. Common clinical features include hyperkeratosis of the palms and soles with digital constriction. Histologic characteristics include parakeratotic hyperkeratosis with hypergranulosis and nuclear accumulation of mutant loricrin. The unique mutations in the glycine-rich domain of the mutant loricrin form arginine-rich nuclear localization sequences (NLSs) that disrupt differentiation of keratinocytes. This group of unique genodermatoses caused by distinct loricrin mutations is collectively termed as loricrin keratoderma (LK).

Animals↗
PubMed1999

Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome.

Vohwinkel's syndrome (VS) is a rare, dominantly inherited keratoderma with pseudoainhum. Recently, a mutation in loricrin gene has been reported in two VS families of British extraction. In the present study, we examined the loricrin gene mutation in a Japanese VS patient. The patient was a 20-year-old woman. She had palmoplantar keratoderma, constricting bands encircling all the fingers, fifth toes, wrist, and neck. She also had generalized mild ichthyosis and suffered from acoustic impairment. Her parents and a brother showed no skin abnormality. Histopathology of the patient revealed hyperkeratosis with parakeratosis, together with hypergranulosis. The clinical and histopathological findings were consistent with an ichthyotic (or Camisa) variant of VS. The sequence analysis of the loricrin gene revealed that the patient had a heterozygous mutation identical to that described in previous reports, i.e. a G insertion producing a frameshift at codon 231 with an abnormal C-terminus. These results clearly demonstrate that a common loricrin gene mutation underlies VS in different ethnic groups.

Adult↗
PubMed1999

Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator.

Sparse fur with abnormal skin and hair (spf-ash) mice are deficient in ornithine carbamoyltransferase (OCT) activity, but their OCT protein is kinetically normal. We administered ammonium chloride to spf-ash mice, in order to analyze ammonia metabolism and to find a rationale for the therapy of OCT deficiency. Ammonia concentration in the liver of spf-ash mice increased to a level much higher than in the control. Ammonium chloride injection caused an increase in ornithine (Orn) 5 min after injection and an increase in the sum of Orn, citrulline (Cit) and arginine (Arg) for at least 15 min in the liver of control mice, but no increase in Orn, Cit and Arg in the liver of spf-ash mice. Treatment of spf-ash mice with Arg 5-20 min prior to the injection of ammonium chloride kept the hepatic ammonia concentration at a level comparable to that without the load. A significant reciprocal relationship between ammonia and Orn concentrations in the liver of spf-ash mice 5 min after an ammonium chloride load with or without Arg strongly suggests that ammonia disposal is dependent on the supply of Orn. In spf-ash mice loaded with tryptone as a nitrogen source, Arg supplementation showed a dramatic decrease in urinary orotic acid excretion in a dose-dependent manner. Similar effects were observed with Cit and Orn at the same dose, and a long-lasting effect with an ornithine aminotransferase inactivator, 5-(fluoromethyl)ornithine, at a much lower dose. The rate of urea formation in liver perfused with ammonium chloride was lower in spf-ash mice than in controls, but with the addition of Orn to the medium it increased to a similar level in control and spf-ash mice. These results indicate that OCT is not saturated with Orn in vivo under physiological conditions and that the administration or enrichment of the urea cycle intermediate amino acids enhances the OCT reaction so that the ammonia metabolism of OCT-deficient spf-ash mice is at least partially normalized.

Amino Acid Metabolism, Inborn Errors↗
PubMed2003

[Failure to thrive and intestinal diseases in congenital disorders of glycosylation].

UNLABELLED: Congenital disorders of glycosylation type I (GDG-I) is a class of genetic multisystem disorders characterised by defective glycosylation of glycoproteins. The characteristics and mechanisms of failure to thrive and intestinal diseases present in CDG-I are anectodal. PATIENTS AND METHODS: The aim of this study was to analyse 7 CDG-I (4 CDG-Ia, 2 CDG-Ib and 1 CDG-Ix) with important digestive symptoms and failure to thrive in order to characterise the mechanisms implied. RESULTS: Four children had no skin abnormality or dysmorphia (1 CDG-Ia, 2 CDG-Ib, 1 CDG-Ix). An encephalopathy with cerebellar hypoplasia was present only in the 4 CDG-Ia. Failure to thrive and diarrhea were present during the first month of life in 6 and appeared at 5 years in one CDG-Ia associated to mild or severe hepatopathy in all patients. One CDG-Ia, 1 CDG-Ib, 1 CDG-Ix had an exsudative enteropathy. A positive steatorrhea was present in 3 patients. Five patients had an abnormal small bowel biopsy. Abnormalities were variable: moderate inflammation of the chorion without villous atrophy in 2, intra-enterocyte fat accumulation without villous atrophy in 2, and partial villous atrophy with lymphangectasia in 1. In 2 CDG-Ia the intestinal biopsy was normal. Enteral nutrition in 4 and parenteral nutrition in 2 were effective in 4 patients and 1 patient with an exsudative enteropathy respond to a free fat diet (CDG-Ix). CONCLUSION: The digestive symptoms with failure to thrive is a common feature of CDG-I and could be the first symptoms. The diagnostic should be suspected if no other cause is found. Mechanisms of the intestinal symptoms appear to be multiple such as inflammation, abnormal enterocyte lipid transport or intestinal permeability related to the abnormal glycosylation of intestinal mucosa glycoproteins.

Child↗