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PubMed2001

Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.

A group of hereditary palmoplantar keratodermas due to heterozygous mutation in the loricrin gene has recently been identified. Of five reported pedigrees, four presented as mutilating keratoderma with ichthyosis (variant Vohwinkel syndrome), and one as progressive symmetric erythrokeratoderma. We report a new Japanese pedigree of loricrin keratoderma. A 14-year-old male and his 11-year-old female sibling had both been born as collodion babies and were initially diagnosed as having non-bullous congenital ichthyosiform erythroderma, but later developed palmoplantar keratoderma with pseudoainhum. Their father was similarly affected. Direct sequencing of genomic DNA revealed a G residue insertion at codon 230-231 of the loricrin gene. Antibody studies confirmed the presence of mutant loricrin in the retained nuclei. We conclude that loricrin gene mutation may present as congenital ichthyosiform erythroderma, and should be included in the differential diagnosis of collodion baby.

Adolescent↗
PubMed2003

The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.

Until about 20 years ago, the term lamellar ichthyosis (LI) represented all nonbullous autosomal recessive ichthyoses except for harlequin ichthyosis and ichthyosis syndromes. Since the 1980s, nonbullous autosomal recessive ichthyoses have been divided into two major clinical entities, nonbullous congenital ichthyosiform erythroderma (NBCIE) and LI. The nature of scaling and intensity of erythroderma are important clinical features that distinguish between NBCIE and LI. However, a considerable number of cases show an intermediate phenotype between the two classic clinical features. Histologically, parakeratosis and inflammatory cell infiltration are seen more frequently in NBCIE than in LI and the stratum corneum is usually thicker in LI than in NBCIE. However, neither histopathological findings nor ultrastructural features seem to help clearly distinguish between NBCIE and LI. Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI. Candidate genes specific to either NBCIE or LI alone have not been identified. Based on these facts, it might be better to consider NBCIE and LI as variations of a single keratinization disorder, although the classification of these autosomal recessive congenital ichthyosis patients into NBCIE or LI depending on their clinical features is still useful for practical patient management.

Diagnosis, Differential↗
PubMed2003

Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature.

We present a 32-year-old white patient with congenital reticular ichthyosiform erythroderma, also known as ichthyosis variegata. The patient had typical clinical features with areas of normal appearing skin surrounded by erythematous hyperkeratotic patches. The smaller "confetti-like" patches were mostly present on the trunk, while the larger areas forming a reticular pattern predominated on the extremities. Ultrastructural findings demonstrated perinuclear vacuolization, binuclear cells and filamentous deposits compatible with congenital reticular ichthyosiform erythroderma. Besides presenting the case, we review the literature on this rare disorder of keratinization.

Adult↗
PubMed2004

Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.

The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.

Adult↗
PubMed1999

Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.

Bullous congenital ichthyosiform erythroderma (BCIE) is a dominantly inherited keratinizing disorder characterized by erythroderma and blistering in neonates and generalized epidermolytic hyperkeratosis (EH) in adulthood. Previously, it has been shown that BCIE can be caused by mutations in either of the genes encoding K1 or K10, the keratins predominantly expressed in suprabasal layers of the epidermis. Using direct sequencing of genomic PCR fragments, we have analyzed 4 British families with BCIE, all of whom were found to carry mutations in K10. In 1 family, the affected person was found to have an unusual dinucleotide transversion mutation, 2138CC-->AA, causing two amino acid substitutions, D155E and R156S, also in the 1A domain of the K10 polypeptide. In 2 further kindreds, the previously reported "hotspot" mutations 2139C-->T and 2140G-->A were found. These mutations predict amino acid substitutions in the helix 1A domain of K10, designated R156C and R156H respectively. The proband in the fourth family was found to carry a novel mutation 4724T-->C, predicting the amino acid change L452P in the helix 2B domain of K10. All mutations were confirmed in the affected persons and were excluded from a population of 50 normal, unrelated individuals by restriction enzyme analysis. The location of these mutations in the highly conserved helix boundary motif sequences of K10 are consistent with previously reported dominant negative mutations in K10 and other keratins. Despite the unusual nature of two of these mutations, in particular the double missense mutation, the phenotypes of the affected individuals in these 4 families were entirely typical of BCIE.

Amino Acid Substitution↗
PubMed1982

Seborrheic keratoses: appearance in course of exfoliative erythroderma and regression associated with histologic mononuclear cell inflammation.

We observed a patient in whom large numbers of seborrheic keratoses developed in the course of a generalized dermatitis that progressed into an exfoliative erythroderma. A renal mass was finally discovered and was surgically excised. On microscopic examination, the kidney tumor proved to be a benign fibrous-walled, multilocular cyst. After removal of the renal cyst, the erythroderma and exfoliation subsided. A few months later, the seborrheic keratoses were noted to have become smaller, flatter, and fewer in number. Microscopic examination of five such involuting lesions showed, in each instance, mononuclear cell infiltration of the seborrheic keratoses. Our findings confirm earlier reports that seborrheic keratosis-like lesions developing during the course of widespread inflammatory cutaneous disorders may regress after control of the dermatosis and suggest that mononuclear cell inflammation may be the mechanism by which regression of these lesions is accomplished.

Aged↗
PubMed2001

Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.

BACKGROUND: Bullous congenital ichthyosiform erythroderma (BCIE) shows phenotypic variability. An epidermal nevus may represent somatic mosaicism for keratin gene mutation, which produces generalized BCIE in the next generation. This fact provides evidence that a postzygotic mutation can be passed on to the next generation in BCIE. We hypothesized that the same phenomenon occurred in a family with BCIE whose phenotypes were extremely different. OBSERVATIONS: We studied a 19-year-old boy with severe ichthyosiform erythroderma and prominent palmoplantar hyperkeratosis with digital contracture. In contrast, the proband's mother exhibited only mild ichthyosiform skin, granular verrucous lesions, and less severe streaky palmoplantar hyperkeratosis. Mutation analysis in the proband showed a keratin K1 mutation (N187S, ie, an A-to-G transition at the second position of codon 187, resulting in an asparagine-to-serine substitution). In the mother, the same keratin gene mutation was recognized, but only faintly in the leukocyte DNA, indicating that the amount of the mutated allele in leukocyte DNA was very low compared with that from the proband. CONCLUSIONS: We speculate that the mildly affected mother showed keratin 1 gene mosaicism, and that the BCIE phenotype had been transmitted in a severe form through a mechanism that passes the keratin gene mutation to the next generation. These results suggest that mild forms of BCIE may actually represent extensive epidermal nevi/keratin gene mosaicism.

Adolescent↗
PubMed1985

Erythroderma with spongiotic dermatitis. Association with common variable hypogammaglobulinemia.

Two middle-aged men presented with generalized erythroderma, diffuse alopecia, and hyperkeratosis of the palms and soles. Histopathologic study demonstrated spongiosis (epidermal intercellular edema) with a perivascular lymphohistiocytic infiltrate. Complete immunologic evaluation demonstrated that both patients had panhypogammaglobulinemia and markedly depressed in vitro pokeweed mitogen-induced immunoglobulin secretion. One of the patients also showed poor lymphocyte responses in vitro to T cell mitogens and antigens and had a decreased ratio of helper to suppressor cells. In both patients, the cutaneous lesions improved with systemic corticosteroids, but no significant alteration in the immunologic abnormalities was observed. This report illustrates that chronic erythroderma may be the presenting clinical manifestation of common variable hypogammaglobulinemia.

Agammaglobulinemia↗
PubMed2004

DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings.

The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma was successfully performed in her two consequent pregnancies using chorionic villus samples at 10 to 11 weeks' gestation, several weeks earlier than the previously reported cases.

Adult↗
PubMed2005

Staphylococcal toxins in patients with psoriasis, atopic dermatitis, and erythroderma, and in healthy control subjects.

BACKGROUND: The aggravating role of Staphylococcus aureus superantigens is well known in atopic dermatitis (AD) but has not yet been proven in psoriasis (PS). OBJECTIVE: We investigated the distribution of S aureus in the skin and nares of patients with AD, PS vulgaris, erythroderma, skin infections, and sepsis, and in healthy control subjects. A Staphylococcal enterotoxin test-reversed passive latex agglutination (SET-RPLAR) test was performed to determine Staphylococcal enterotoxins A, B, C, and D. RESULTS: S aureus was cultivated from lesional skin of 22 of 25 patients with AD and 15 of 25 patients with PS. Isolated strains were toxigenic in 44% for patients with AD and in 36% for patients with PS. The activity of disease in AD and PS according to the Severity Scoring of Atopic Dermatitis (SCORAD) or Psoriasis Area and Severity Index score, respectively, correlated significantly (P = .001) with an isolated toxigenic strain in both diseases. S aureus from skin infections was toxigenic in half of the patients. All patients with erythroderma harbored S aureus, mostly on their skin. In AD, sepsis and skin infections, toxin C and in PS toxin B was most often detected. S aureus was cultured in 12% of healthy persons. These strains were toxin negative. The limitations of these investigations are that other potentially acting enterotoxins, such as toxic shock syndrome toxin-1, which may play a role in aggravating disease, were not investigated with our latex agglutination test. CONCLUSION: In this study, S aureus was present in more than 50% of patients with AD and PS. We found that the severity of AD and PS significantly correlated to enterotoxin production of the isolated S aureus strains.

Adolescent↗
PubMed2006

[Tumoral and pilotropic mycosis fongoides without mucin: evolution towards a pustulous erythroderma].

INTRODUCTION: Pilotropic mycosis fongoides is a particular form of the disease, because of its clinical and histological aspects, its poor prognosis and its resistance to treatment. We report a case of pilotropic mycosis fongoides without mucinosis, immediately tumoral, the fatal progression of which was marked by the occurrence of pustular erythroderma. OBSERVATION: In 1998 a 69 year-old man presented with infiltrated erythro-squamatous plaques and nodules on the limbs associated with follicular lesions predominating on the cervical-cephalic area. Histological explorations revealed a pilotropic infiltrate with atypical CD4+ CD8 CD30 T-cells, without epidermotrophism or mucinosis. Study of genetic rearrangements found a clone lymphocyte T-cell in the skin. Diagnosis of pilotropic mycosis fongoides at the tumoral stage was made and, despite various treatments, the disease developed towards fatal pustular erythroderma. DISCUSSION: At the onset of its progression, pilotropic mycosis fongoides is sometimes difficult to distinguish from classical mycosis fongoides, during which follicular involvement is often seen. However it is important to differentiate these entities because of the poor prognosis of pilotropic mycosis fongoides. Development of tissue micro dissection techniques and lymphocyte T-cell clones from human skin would help to separate these cutaneous T-cell lymphoma sub-groups. Our case report is original because of the absence of dermal mucinosis combined with an immediately tumoral form and the progression towards generalized pustulosis. It also underlines the poor prognosis and resistance to treatment of pilotropic mycosis fongoides.

Aged↗
PubMed1996

Acquired ichthyosiform erythroderma and sarcoidosis.

We describe a patient with ichthyosiform erythroderma as a manifestation of sarcoidosis. This is the first report of the simultaneous occurrence of erythroderma and ichthyosis in sarcoidosis.

Dermatitis, Exfoliative↗
PubMed1996

Photoaccentuated erythroderma associated with CD4+ T lymphocytopenia: successful treatment with 5-methoxypsoralen and UVA, interferon alfa-2b, and extracorporeal photopheresis.

We describe a 53-year-old HIV-negative white man who had chronic CD4+ T lymphocytopenia and photoaccentuated erythroderma with lymphoma-like histologic changes. The erythroderma completely responded to 5-methoxypsoralen and UVA (PUVA), interferon alfa-2b, and extracorporeal photopheresis. During therapy opportunistic skin infections, including tinea corporis, warts, and disseminated molluscum contagiosum, developed. Although the patient met the current definition of idiopathic CD4+ T lymphocytopenia (ICTL), we cannot rule out the possibility that this peripheral CD4+ T lymphocytopenia resulted from sequestration of CD4+ T lymphocytes in erythrodermic skin.

5-Methoxypsoralen↗
PubMed1998

Bullous pemphigoid presenting as exfoliative erythroderma.

Several unusual clinical presentations of bullous pemphigoid have been described such as localized, vesicular, vegetating, nodular, and sine bulla pemphigoid. Patients with erythroderma who fulfill diagnostic criteria for bullous pemphigoid and in whom bullae develop have been reported. We describe a patient with exfoliative erythroderma without any blistering in whom a diagnosis of bullous pemphigoid was based on examination of a biopsy specimen. Circulating antibodies to the basement membrane zone, with an epidermal pattern on salt split skin, and the presence of eosinophilic spongiosis in the skin biopsy specimen supported the diagnosis.

Aged↗
PubMed2000

Erythroderma.

Erythroderma can be caused by a variety of underlying dermatoses, infections, and systemic diseases. Many of the findings on history, physical examination, and laboratory evaluation are nondiagnostic. Distinctive clinical and laboratory features pointing to a specific disease may be evident, however. Conclusive clinicopathologic correlation may require multiple and repeated skin biopsies. The prognosis of erythroderma has improved with the advent of innovative dermatologic therapies (e.g., cyclosporine and synthetic retinoids) and advances in the management of systemic manifestations. Death from sepsis, cardiac failure, adult respiratory distress syndrome, and capillary leak syndrome continue to be rarely reported. A high index of suspicion for these complications must be maintained to facilitate early medical intervention.

Dermatitis, Exfoliative↗
PubMed2000

Keratosis lichenoides chronica: report of a case developing after erythroderma.

A 66-year-old male presented with keratosis lichenoides chronica after a presumed drug-induced erythroderma. After resolution of the erythroderma, slightly scaly erythematous and violaceous papules in a reticular arrangement over the trunk and limbs developed in association with hoarseness, palmoplantar keratoderma, onycholysis and subungual keratosis. Histology from a lichenoid lesion showed pseudo-epitheliomatous hyperplasia, hyperorthokeratosis, parakeratosis, dyskeratosis, neutrophil exocytosis and focal vacuolar degeneration of the basal layer of the epidermis. There was a band-like chronic inflammatory infiltrate in the upper dermis. The skin improved with prednisone 40 mg/day for 15 days, leaving atrophic hypopigmented scars. A diagnosis of keratosis lichenoides chronica was made.

Aged↗
PubMed1998

An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.

Defective keratins are the cause of a number of hereditary disorders of the epidermis and other epithelia. The disease-causing mutations in keratins are clustered in the rod domain, and mutations in the helix boundary peptides cause the most severe forms of epidermal fragility syndromes. Siemens described a family with an atypical, mild form of bullous congenital ichthyosiform erythroderma. Linkage analysis in this family indicated that a defective type II keratin might be the underlying cause, keratins K1 and K2e being the best candidates. A substitution of valine for aspartic acid was detected at position 340 (D340V) in the L12 region of the K1 polypeptide. The mutation was found to cosegregate with the disorder in the family. Herewith, a genotype-phenotype correlation is shown for bullous congenital ichthyosiform erythroderma comparable with that described for epidermolysis bullosa simplex.

Genetic Linkage↗
PubMed2002

Ki-1(CD30) positive anaplastic large cell lymphoma: primary nodal disease relapsing as erythroderma.

Ki-1 (CD30) positive anaplastic large cell lymphoma (ALCL) is an uncommon, high-grade non-Hodgkin's lymphoma with distinct morphologic and immunohistochemical features. Solitary or multiple ulcerated nodules typically characterize cutaneous involvement. Erythroderma is very rare. We report the first case of primary nodal ALCL in which disease relapse manifested as generalized papules, nodules, and erythroderma. This unusual case expands the spectrum of cutaneous disease associated with Ki-1 positive ALCL and highlights the need for early biopsy in patients with a history of Ki-1 positive ALCL who have skin lesions develop.

Adult↗