Hyperimmunoglobulin E syndrome

A 63-year-old man presented with erythroderma, peripheral blood eosinophilia, elevated serum IgE levels, and a history of dermatitis, furunculosis, and a cold abscess. Hyperimmunoglobulin E syndrome is a rare, multisystem disorder that is characterized by cutaneous and sinopulmonary infections, dermatitis, and elevated serum IgE levels. Traditional therapy includes good skin care, antibiotics for skin and pulmonary infections, incision and drainage of abscesses, and emollients plus topical glucocorticoids for dermatitis.     

Netherton's syndrome: the importance of eyebrow hair

Netherton's syndrome (NS) is a rare autosomal recessive disease associated with variable expressions: congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, specific hair shaft defects (trichorrhexis invaginata) and atopic diathesis. We report the case of 14-year-old non-identical twins whose diagnosis of NS was established on light microscopy of eyebrow hairs. The sisters consulted for a severe episode of atopic dermatitis. Skin examination revealed an ichthyosiform eruption with generalized, polycyclic erythematous plaques with fine double-edged scaling. The flexural creases were lichenified and multiple eczematoid patches were noted. Blood investigation revealed eosinophilia and high IgE level. Microscopy of scalp hair of the twins was repeatedly normal, but the one of the eyebrows revealed typical trichorrhexis invaginata. The presence of trichorrhexis invaginata is necessary to make the diagnosis of NS, but its identification can be difficult because this defect is variable in time and localization. The examination of eyebrow hairs is especially beneficial for patients first seen in late childhood and adults.     

Significance of Elevated Serum Squamous Cell Carcinoma (SCC)-Related Antigen and Lactate Dehydrogenase (LDH) Levels in Senile Erythroderma Following Eczema

Clinical and laboratory tests were used to evaluate fourteen patients with senile erythroderma following eczema, and the results were compared with those from four patients with psoriatic erythroderma, two with Sézary syndrome, and twelve with prurigo chronica multiformis or nummular dermatitis. Characteristic laboratory findings included elevated serum squamous cell carcinoma-related antigens (SCC-RAg), high lactate dehydrogenase (LDH), peripheral-blood eosinophilia, and a decreased peripheral blood lymphocyte percentage. Following treatment, titers of SCC-RAg and LDH resumed normal levels with remission. In patients with senile erythroderma following eczema, serum IgE was quite high and varied but, in a few instances, was within the normal range. SCC-RAg and LDH may thus be considered useful as markers for evaluating disease conditions of the skin of patients with senile erythroderma following eczema.     

Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene

Prominent dermal infiltration by Langerhans cells (LC) is a rare finding in patients with Omenn syndrome (OS). Here, we report the case study of a 7‐month‐old boy with OS and with prominent dermal infiltration by LC, which is a rare histological manifestation of the skin. Striking erythroderma appeared in the patient 2 weeks after birth. We also noted alopecia, lymphadenopathy, hepatosplenomegaly, eosinophilia and an elevated serum immunoglobulin E level with hypogammaglobulinemia. Peripheral blood flow cytometry showed the T^lowNK⁺B⁺ immunophenotype and genetic analysis, a novel mutation in the IL2RG gene (c.337_339delTCT, p.Ser113del). The final diagnosis was that of OS. He responded well to an allograft umbilical cord blood transplantation that was performed when the patient was 8 months of age. We speculate that the LC accumulated in the dermis will eventually migrate to the regional lymph node, then stimulate autoreactive T cells by overpresenting antigens, thus causing OS‐specific skin symptoms.     

Case for diagnosis. Erythroderma as manifestation of hypereosinophilic syndrome

Hypereosinophilic syndrome is defined as persistent eosinophilia (>1500/μL for more than six months) associated with organ involvement, excluding secondary causes. It is a rare, potentially lethal disease that should be considered in cutaneous conditions associated with hypereosinophilia. We report a case of erythroderma as a manifestation of hypereosinophilic syndrome. A 36-year-old male with no comorbidities presented progressive erythroderma, pruritus, peripheral neuropathy, and eosinophilia in the previous seven months. No mutations were found in FIP1L1/PDGFRA. Patient experienced rapid remission in response to oral prednisone and hydroxyurea. Cutaneous manifestations may be the only evidence of hypereosinophilic syndrome. Genotyping excludes myeloproliferative disease, thereby orienting treatment and prognosis.     

An association of paraneoplastic syndromes in a patient

BACKGROUND: Erythema gyratum repens is a rare cutaneous marker for internal malignancy and the association with other paraneoplastic syndromes is not unusual.CASE REPORT: We report the case of a 54 year-old man with a three-month history of erythroderma which evolved into erythema gyratum repens; a bronchial carcinoma was discovered. Erythema gyratum repens was associated with acquired ichthyosis, hyperkeratosis of the ears and eosinophilia. Improvement of the paraneoplastic dermatosis was achieved by treatment of the underlying carcinoma with chemotherapy, surgery and radiation. However, the lesions relapsed when metastases appeared. Another regimen of chemotherapy improved the carcinoma and the dermatosis.DISCUSSION: The parallel course of the carcinoma and the cutaneous eruption strongly supports the diagnosis of a cutaneous paraneoplastic syndrome. Three months prior to erythema gyratum repens, the patient developed a scaling erythroderma. This unusual early manifestation is misleading. Our case highlights the possible association of different paraneoplastic syndromes: initially scaling erythroderma, followed by erythema gyratum repens associated with acquired ichthyosis, hyperkeratosis of the ears and eosinophilia.     

Can cyclosporin A induce permanent remission of atopic dermatitis?

Three adult patients, wbo bad suffered from severe tberapy-resistant atopic dermatitis since childbood, were treated witb long-term (29,44 and 22 months) low-dose (maintenance dose: 0.5–0.7 mg/kg) cyclosporin A (CyA). All responded rapidly witbin 3–5 weeks and exbibited only minor exacerbations during tbe first pbases of therapy. No relapse occurred in any of the patients after drug withdrawal. All patients remained symptom-free, except for occasional very mild and easily manageable localized lesions, for follow-up periods of 34, 13 and 22 months. Side-effects were minimal or tolerable (mild by pertricbosis in two patients, a slight decrease of creatinine clearance in one). In contrast with the clinical improvement, all atopy-related parameters such as blood eosinophilia, elevated IgE levels and specific IgE (RAST) reactivity remained essentially unchanged, as were skin dryness and stigmata of atopy. It is concluded tbat long-term low-dose CyA treatment may lead to permanent or long-term total or subtotal remission of atopic dermatitis.     

Heterogeneity of interleukin 5 genetic background in atopic dermatitis patients: significant difference between those with blood eosinophilia and normal eosinophil levels

BACKGROUND: Blood eosinophil levels in patients with atopic dermatitis vary widely during exacerbation of the disease. We considered that in addition to environmental factors, the genetic background involved with elevating blood eosinophil levels might be heterogeneous among atopic dermatitis patients. OBJECTIVE: We attempted to determine whether a polymorphism of the interleukin (IL)5 gene plays a role in atopic dermatitis, particularly in those patients with blood eosinophilia. Due to the close relation of blood eosinophilia to high IgE productivity, we also assessed these polymorphisms in patients with high IgE concentrations. METHODS: We determined the genotype of the IL5 polymorphism -703C/T in 451 atopic dermatitis patients and 116 normal subjects. The patients were classified into three groups by blood eosinophil levels; less than 7%, from 7 to 15%, and more than 15%, as well as by serum IgE concentrations; less than 500 IU/ml, from 500 to 2000 IU/ml, and more than 2000 IU/ml. RESULTS: IL5 -703C/T was not significantly associated with either total atopic dermatitis patients or individual patients who had both blood eosinophilia and high IgE productivity. However, the distribution of the IL5 -703C/T genotype was significantly different between patients with either blood eosinophilia or high IgE productivity and those without either condition (P=0.0476, P=0.0088, respectively). CONCLUSION: These results suggest that the IL5 gene may play a role in blood eosinophilia associated with atopic dermatitis. We also considered that the IL5 -703C/T gene polymorphism does not have a direct relationship to disease specificity.     

Neonatal Onset Diffuse Cutaneous Mastocytosis: A Case Report and Review of the Literature

Abstract: Diffuse cutaneous mastocytosis is a rare variant of mast cell disease with widespread erythroderma, which is normally clinically apparent in early infancy. We report the case of a neonate who presented with diffuse erythrodermic rash and bullous lesions. Biopsy specimens showed a dense dermal infiltrate of mast cells. Serum histamine and tryptase levels were elevated. No somatic mutation of the c‐kit gene was found. Blistering ceased at 5 months of age, but atopic dermatitis appeared at 6 months and allergic workup revealed a high level of food‐specific IgE. Herein, we describe the case and provide the first review of the literature on neonatal onset diffuse cutaneous mastocytosis to clarify the prognosis of this condition.     

A dermatitis-eosinophilia syndrome. Treatment with methylprednisolone pulse therapy

A 47-year-old man had a generalized, eczematous erythroderma and eosinophilia one week after a wasp sting. These changes persisted for four months despite intensive topical therapy and oral corticosteroids. He was then given corticosteroid pulse therapy with methylprednisolone sodium succinate (2 g, intravenously). One week later, a second pulse treatment was administered. This therapy was followed by permanent resolution of the dermatitis within two weeks.     

Hypereosinophile Dermatitis

BACKGROUND: The idiopathic hypereosinophilic syndrome is a rare systemic disease characterized by blood and tissue eosinophilia of unknown etiology, in which multiple organs may be affected. In hypereosinophilic dermatitis the only affected organ besides the blood is the skin. PATIENTS: We present a series of seven patients with hypereosinophilic dermatitis who were treated in our hospital between 2002 and 2003. RESULTS: All patients initially showed characteristic, therapy-resistant, polymorphic skin lesions, presenting with a combination of erythematous, pruritic and urticarial papules and plaques. All had blood eosinophilia without evidence of allergic, parasitic or other causes. The histology showed tissue eosinophilia only in half of the cases; the other histological findings were non-specific. We observed a good response to therapy with systemic corticosteroids, dapsone and light therapy, applied as UVA-1 irradiation or as shower photochemotherapy. CONCLUSIONS: The diagnosis "hypereosinophilic dermatitis" should be based primarily on the characteristic clinical picture together with "idiopathic" peripheral eosinophilia, whereas the histological findings are not always indicative. Because of the multiplicity of possible differential diagnoses and the often non-revealing histology, we assume that the diagnosis "hypereosinophilic dermatitis" is often overlooked.     

Atopic dermatitis apparently caused by Type 2 CD8+ T cells in an AIDS patient

A patient with atopic dermatitis and acquired immune deficiency syndrome (AIDS) had demonstrated blood eosinophilia, high levels of serum IgE and intracytoplasmic IL-4 in the CD8+ but not in the CD4+ cells, decreased numbers of CD4+ cells, and low levels of IL-2 in both CD4+ and CD8+ cells. These results, reflecting a predominant influence of type 2 CD8+ cells, suggest they were involved in the genesis exacerbation of the patient's atopic dermatitis.     

Omenn's syndrome

A 7-month-old boy presented with a 6-month history of a skin eruption of the scalp and the diaper area (Fig. 1) resembling seborrheic dermatitis. Since the age of 3 months, he had developed high grade fever, diffuse pruritic skin lesions, stomatitis (Fig. 2), chronic diarrhea, diffuse lymphadenomegaly, and failure to thrive. The parents were nonconsanguineous and no similar disease had ever been reported in the family. Physical examination showed alopecia, generalized lymphadenopathy, and hepatosplenomegaly. The patient's skin was dry with generalized erythematous, scaling pruritic eruptions and small violaceous nodules on the extremities. Laboratory investigations revealed: slight normochromic anemia, leukocytosis (18,000/mm³) with lymphocytosis (42%), and mild eosinophilia (12%); decreased levels of all classes of serum immunoglobulins were observed with normal IgE levels. Examination of phagocytosis, opsonization, and granulocyte chemotaxis revealed no abnormalities. The number of circulating T cells was within normal limits, whereas that of B cells was low. Recall antigens and T- and B-lymphocyte proliferative response to mitogens and Candida albicans proteins resulted in poor stimulation. Chromosomal analysis of mononuclear ceils from the peripheral blood and skin fibroblasts showed a normal male Kariotype, and HLA typing did not reveal any maternal chimerism. A skin biopsy specimen showed satellite cell necrosis of Keratinocytes and a dense lymphohistiocytic and eosinophilic perivascular infiltrate in the dermis. A specimen from a lymph node showed a picture consistent with dermatopathic iymphadenopathy, with an increase of cells with histiocytic appearance and a dense infiltrate of eosinophils. On electron microscopic examination, no cells with Birbeck's granulations were found in the skin infiltrate and lymph nodes. A bone marrow biopsy was normal. One month later the patient developed generalized exfoliative erythroderma with recurrent cytomegalovirus infections and staphylococcal septicemia. Despite antimicrobial and prednisone therapy, the patient died of toxic shock at the age of 9 months. An autopsy showed diffuse lymphohistiocytic infiltration involving the skin and lymph nodes and extreme lymphocytic depletion in the thymus. Meningitis and pneumonia were also present.     

Chronisch aktinische Dermatitis

A 66-year-old man was diagnosed with psoriasis in 2001 and treated accordingly; in 2007, the diagnosis was switched to atopic dermatitis and the therapy modified. Initially he improved with fumarates and methotrexate, but then experienced recurrent exacerbations with erythroderma and severe superinfection requiring hospitalization. Based on the modified clinical picture with striking accentuation on the head and back of the hands, we diagnosed chronic actinic dermatitis. In September 2008 immunosuppressive therapy with mycophenolate mophetil (2×500?mg/d) was started. Since the response was modest, photo-hardening with systemic photochemotherapy (PUVA) was added, producing close to complete recovery within 6 months.     

Chronic actinic dermatitis. Therapy with systemic PUVA and mycophenolate mofetil

A 66-year-old man was diagnosed with psoriasis in 2001 and treated accordingly; in 2007, the diagnosis was switched to atopic dermatitis and the therapy modified. Initially he improved with fumarates and methotrexate, but then experienced recurrent exacerbations with erythroderma and severe superinfection requiring hospitalization. Based on the modified clinical picture with striking accentuation on the head and back of the hands, we diagnosed chronic actinic dermatitis. In September 2008 immunosuppressive therapy with mycophenolate mophetil (2×500?mg/d) was started. Since the response was modest, photo-hardening with systemic photochemotherapy (PUVA) was added, producing close to complete recovery within 6 months.     

A case of pre-Sézary syndrome preceded by hand lesions.

Pre-Sézary syndrome is an erythroderma with a chronic course, clinical findings of Sézary syndrome, lymphocytic subepidermal band infiltration at times, and repeated cycles of circulating Sézary cells of less than 1,000 cells/mm3. Duration of the pre-existing skin diseases preceding pre-Sézary erythroderma varies from a few weeks to 20 years. Before the erythroderma develops, these patients are diagnosed with contact dermatitis, neurodermatitis, chronic dermatitis, atopic dermatitis, or asteatotic eczema. Hand lesion also precedes the pre-Sézary erythroderma. This condition has been controlled by three cycles of chemotherapy consisting of vincristine, cytoxan, doxorubicin, and prednisolone. We describe a case of pre-Sézary syndrome preceded by hand lesion and treated with chemotherapy.     

Netherton Syndrome Presenting as Congenital Psoriasis

Abstract: A white boy had erythroderma and dense scale at birth. By 3 months the scale had localized to scalp, diaper area, and acral surfaces. Two biopsy specimens were read as psoriasiform dermatitis at 1 and 3 months. It was not until he was 10 months of age, when terminal hairs grew with nodose irregularities (trichorrhexis invaginatum), that the correct diagnosis of Netherton syndrome was made.     

Pyoderma gangrenosum in association with microscopic colitis,idiopathic hypereosinophilic syndrome,selective IgE deficiency and diabetes mellitus

Pyoderma gangrenosum (PG) is a neutrophilic dermatosis of unknown aetiology. We report a 27‐year‐old male patient with diabetes, who presented with a nonhealing ulcer on the left leg, pruritic hyperpigmented papules distributed over the trunk and limbs, and chronic diarrhoea. He had eosinophilia, low haemoglobin and serum IgE levels, and raised erythrocyte sedimentation rate. Histopathology of the leg ulcer was consistent with the diagnosis of PG, while the histology of the hyperpigmented papule revealed tissue eosinophilia. Subsequent evaluation was conclusive of the diagnosis of PG, idiopathic hypereosinophilic syndrome (IHES) and selective IgE deficiency. Dexamethasone pulse therapy achieved resolution of the ulcer and reduction in the eosinophilia. Further evaluation for the persistent diarrhoea led to a diagnosis of lymphocytic colitis (LC), which responded to budesonide. To our knowledge, the association of PG with IHES, selective IgE deficiency or LC has not been previously reported.     

Papuloerythroderma Ofuji: Bade-PUVA-Behandlung

Papuloerythroderma of Ofuji is a rare skin disorder described primarily in Japanese patients. It occurs primarily in elderly men. The initial lesions are diffuse red papules, sparing the face, palms and soles. Later the papules coalesce into an erythroderma, with typical sparing of the skin folds and creases (the deck chair sign). Pruritus is usually intense. Lymphadenopathy, peripheral blood eosinophilia and elevated IgE levels all are common. Both systemic corticosteroids and systemic PUVA therapy have been recommended. We describe a German male who fulfilled the diagnostic criteria for papuloerythroderma of Ofuji and responded well to PUVA bath therapy with both improvement in skin findings and reduction in pruritus.     

Paraneoplastic erythroderma: apropos of a case

A 63-year-old male patient had severe exfoliative dermatitis (erythroderma) which led to the discovery of squamous cell carcinoma of the larynx. The possibility of paraneoplastic erythroderma is discussed. Although such an aetiology is rare, 5 cases with a similar paraneoplastic syndrome have been previously reported, which cannot be considered as a merely fortuitous association of exfoliative dermatitis and visceral cancer.