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PubMedDate not supplied

Harlequin ichthyosis: a case study.

The most severe manifestation of congenital ichthyosis presents itself in the form known as harlequin ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the fetal skin. Affected infants are born with a thick "horny shell" of dense, waxy, platelike scales with deep, irregular fissures covering the body. Contraction of the extremities is seen, along with deformities of the ears, eyes, mouth, and digits. This "armor" limits movement and compromises the skin's barrier defense, leaving the newborn at risk for metabolic abnormalities and infection. A case study of our unit's experience is provided.

Abnormalities, Multiple↗
PubMed1995

Skin barrier properties in patients with recessive X-linked ichthyosis.

Patients with X-linked recessive ichthyosis (RXLI) were studied as a model of the effect of disturbed epidermal lipid composition on skin barrier function. Thirteen patients with RXLI and 15 age- and sex-matched controls were patch-tested with sodium lauryl sulphate (SLS) 0.5% for 24 h. Basal skin properties and skin response to SLS were studied by measurement of transepidermal water loss (TEWL), electrical capacitance and erythema index. No statistically significant difference in basal TEWL was found between the two groups. The skin response to SLS was found to be statistically significantly increased in controls compared to ichthyosis patients, when evaluated by TEWL. When evaluated by erythema index a statistically significant increase in redness was found in controls, but not in ichthyosis patients. Electrical capacitance, reflecting skin hydration, was significantly reduced in RXLI patients as compared to controls. The water permeability barrier in RXLI patients was not found to be impaired, and skin reactivity was found to be decreased in RXLI patients as compared to controls.

Adult↗
PubMed2000

Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?

A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.

Alopecia↗
PubMed2000

An unusual central retinal dystrophy associated with ichthyosis vulgaris.

A number of ichthyosis syndromes may have retinal abnormalities such as the retinitis pigmentosa-like diffuse rod-cone dystrophy in Refsum's syndrome and the maculopathy in Sjögren-Larsson syndrome. We present two sisters who have an unusual, almost identical, bilaterally symmetric central retinal dystrophy associated with ichthyosis vulgaris in the absence of other systemic disorders. We believe that this dystrophy has not been previously described in patients with any of the known varieties of ichthyosis.

Adolescent↗
PubMedDate not supplied

Lamellar ichthyosis: a case report.

Ichthyoses are divided into four groups according to clinical, histopathologic and genetic findings. Lamellar ichthyosis is one of them. The incidence of lamellar ichthyosis is believed to be approximately 1 per 100,000 to 300,000 live births. It is characterized by large, polygonal, grayish brown, and tightly adherent scales. We report a four-year-old boy with desquamative lesions since birth who had six-year-old sister with similar lesions, suggesting an autosomal recessive inheritance. His skin biopsy revealed hyperkeratosis with lamellae. There were no associated hair or neurological abnormalities. His clinical and histopathological findings were typical for isolated lamellar ichthyosis. Because of its rare occurrence, we report this case with a review of the literature.

Child, Preschool↗
PubMed1992

[Cicatricial ectropion and ichthyosis. Apropos of 4 cases].

Ichthyosis are dystrophic inheritance skin disorders with inconstant palpebral complications like cicatricial ectropion and lagophthalmos due to large skin retractions. The authors report two cases of cicatricial ectropion in two adults. For one of the two cases, it is the first description to our knowledge of cicatricial ectropion associated with ichthyosis vulgaris sex-linked. The authors, after a short description of physiopathology and of classification of the different types of ichthyosis describe the surgical treatment with skin grafts, with good results in the first post operative period only in two adults. The two newborns had good results with medical treatment only.

Adult↗
PubMed2006

Ichthyosis in two Chianina calves.

The occurrence of ichthyosis in two Italian Chianina calves is described for the first time. Both animals, affected by ichthyosis fetalis and ichthyosis congenita, respectively, showed diffuse cutaneous thickening which had been present since birth. The first patient was a three-month-old female calf; inelastic leather cuirass-like skin associated with generalized hypotrichosis and local alopecia, delay of the physiologic change of coat colour, stiff movement and growth retardation were the most prominent clinical characteristics. The patient was kept under observation for almost one year. The second case occurred in a 18-day-old female calf which was referred to our clinic after it had already died; the presence of irregular hyperkeratotic plates separated by deep fissures over the entire cutaneous surface and the slight eversion of the mucocutaneous junction (eclabium and ectropion) were the most characteristic alterations. In both cases, the major histopathological feature was a diffuse lamellar orthokeratotic hyperkeratosis. An underlying genetic defect was strongly suspected on the basis of a common ancestor for the two sires of the affected calves and of the current scientific knowledge.

Animals↗
PubMed1991

[Acquired ichthyosis caused by bladder neoplasia. Presentation of the 1st case in Cuba].

Ichthyosiform dermatoses comprise a heterogeneous group of cutaneous disease characterized by keratin disorder that clinically manifests as dry, rough and scaly skin. The acquired form of ichthyosis has principally been associated with neoplastic disease. It has also been described in association with other disorders and as drug-induced cutaneous manifestations. We report on a patient with a bladder tumor who developed acquired ichthyosis, a complication and presenting feature of the underlying neoplastic condition. The clinical manifestations and associated conditions are described. To our knowledge, this is the first case of acquired ichthyosis from a bladder tumor reported in Cuba.

Aged↗
PubMed1989

[Ultrastructural changes in the epidermis in ichthyosis vulgaris].

Electron-microscopic examinations of the epidermis in 11 patients suffering from xeroderma with autosomal dominant and X-recessive inheritance have revealed changes in the basal membrane, scarce pinocytotic vesicles near the basal membrane, inter- and intracellular edemas in the epidermis, a decrease of the desmosomal contacts and an increased number of microvilli on the epidermocytes of the basal and prickle-cell layers, condensation of the nucleoplasm, reduced counts of organelles and condensation of the epidermocyte tonofilaments, hyperkeratosis, and an elevated count of the desmosomes in the horny layer in both forms of ichthyosis. Autosomal dominant ichthyosis is characterized by the presence of just few intact, or by complete absence of keratohyalin granules in the granular layer. The detected ultrastructural signs may be used in the differential diagnosis between various ichthyosis forms and may contribute to deciphering the pathogenetic mechanisms of impairment of keratinization in this hereditary dermatosis.

Adolescent↗
PubMed1986

[Biochemical diagnosis of X chromosomal ichthyosis].

Steroid sulfatase (STS) and aryl sulfatase C (ASC) in leucocytes, as well as the electrophoretic mobility of the beta-lipoproteins, were analyzed in 34 patients with autosomal dominant ichthyosis (ADI), 18 patients with X-linked recessive ichthyosis (XRI), 7 patients with congenital nonbullous ichthyosis (CNBI), and 48 controls. The geometric means of both STS and ASC were significantly lower in the group of XRI by a factor of approximately 10. Analysis of ASC showed a clear separation of the whole group of XRI patients opposed to patients with ADI and CNBI and the controls, whereas an overlapping was observed for STS. With one exception, the clinical and biochemical diagnosis (sulfatase) was confirmed by the results of the lipoprotein electrophoresis (LPE). This case, clinically and biochemically diagnosed as XRI, exhibited normal electrophoretic mobility of beta-lipoproteins. We conclude: if the electrophoretic mobility of beta-lipoproteins is enhanced, XRI can be diagnosed; if the LPE is normal, XRI cannot be excluded; in this case, the diagnosis of XRI can be confirmed or rejected by analysis of the microsomal sulfatases.

Adult↗
PubMed1987

X-linked recessive ichthyosis. Reinvestigation of a family first described in 1928.

Recent findings in a family with X-linked recessive ichthyosis are presented. The first description of this family in the literature was given and correctly diagnosed by Csörsz in 1928. His paper can be considered one of the most widely cited proofs of the existence of X-linked ichthyosis. The extended pedigree as well as data of steroid sulfatase and arylsulfatase C determinations presented in this paper verify the diagnosis of the X-linked mode of inheritance of ichthyosis in this family. The biochemical investigations carried out on leukocytes of family members resulted not only in a confirmation of the clinico-genetic diagnosis, but they also helped to establish the heterozygous genotype of a female mentioned previously as an affected person.

Aged↗
PubMed1978

[Comel's linear circumflex ichthyosis and Netherton's syndrome. General conceptions based on study of 4 cases (author's transl)].

We have recently observed 4 new particularly demonstrative cases and we think it is adequate to give a general conception in order to bring together in one and a single syndrom the ichthyosis linearis circumflexa Comel and the Netherton's syndrom. We also emphasize some features:--the possible association of ichthyosis linearis circumflexa with family epileptogenous encephalopathy;--a particular type of trichorrhexis which we named "frayed pili torti";--the usual lethality in males, with possible serious viral and pyococcic superinfection;--the characteristics of ichtyosiform erythroderma in the Netherton's syndrom. At the end of this study we confirm that a unicist theory which would consider Netherton's syndrom and ichthyosis linearis circumflexa as one and a single disease should be adopted.

Adult↗
PubMed1986

Lamellar ichthyosis with episodic psoriasiform reaction pattern.

The skin of a girl born with the typical appearance of "collodion baby," evolved into an exfoliative erythroderma that clinically was lamellar ichthyosis. However, biopsy specimens done in early infancy showed psoriasis. Over the ensuing sixteen years she has continued to have clinical lamellar ichthyosis with rare occasions of febrile episodes and superficial pustules. Some biopsy specimens have been diagnosed as showing lamellar ichthyosis, while others have again shown psoriasis.

Adolescent↗
PubMed1985

Ichthyosis follicularis with alopecia and photophobia.

We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance.

Alopecia↗
PubMed1971

Possible genetic heterogeneity of X-linked ichthyosis.

A presumably "new" type of X-linked ichthyosis was observed in a kindred over three generations. Clinical and histologic findings are intermediate between the autosomal dominant ichthyosis vulgaris and the classical X-linked form (type Wells-Kerr) of the disease. This may indicate genetic heterogeneity of X-linked ichthyosis or a wider clinical spectrum than previously assumed.

Adolescent↗
PubMed1983

Long-term oral treatment of two pronounced ichthyotic conditions: lamellar ichthyosis and epidermolytic hyperkeratosis with the aromatic retinoid, Tigason (RO 10-9359).

Five patients suffering from lamellar ichthyosis and 3 from epidermolytic hyperkeratosis (previously called non-bullous and bullous congenital ichthyosiform erythroderma) were treated from 11 to 52 months with the synthetic aromatic retinoid Tigason (RO 10-9359). In all cases of lamellar ichthyosis the results were judged as good to excellent, while none of the patients with epidermolytic hyperkeratosis gave more than a slight response. The reason for the poorer results in the latter condition was that effective therapeutic dosages in relation to ichthyosis invariably produced increased blistering. These and other side effects such as cheilitis, mild dryness of mucous membranes, slight hair loss, and pruritus, in no case necessitated discontinuation of the drug.

Administration, Oral↗
PubMed1981

The keratitis, ichthyosis, and deafness (KID) syndrome.

We describe here a patient with ichthyosis, keratitis, deafness, and recalcitrant cutaneous bacterial and fungal infections, who was previously described as having hereditary hypohidrotic ectodermal dysplasia. Similarly affected patients described in the literature have the following features in common: (1) a distinctive ichthyosis characterized by a fine dry scale, follicular hyperkeratotic spines, and a reticulated pattern of hyperkeratosis on the palms and soles; (2) a vascularizing keratitis that results in notable visual impairment; and (3) neurosensory deafness. One half of the affected patients also display frequent, severe cutaneous infections. We suggest that the name "the KID syndrome" to emphasize the characteristic features of the syndrome-keratitis, ichthyosis, and deafness.

Adult↗
PubMed1993

Analysis of the cornified cell envelope in lamellar ichthyosis.

BACKGROUND: Loricrin and involucrin are major precursor proteins to the cornified cell envelope expressed late in epidermal differentiation. Involucrin expression starts in the upper spinous layers in normal human epidermis and precedes loricrin expression, which is restricted to the granular layer. Subsequently, both proteins become cross-linked by the activity of transglutaminases TGK/E as major components of the cornified cell envelope by N epsilon-(gamma-glutamyl)lysine isopeptide bonds. In this study, three cases of lamellar ichthyosis were analyzed by immunohistologic study with antibodies to loricrin, involucrin, filaggrin, and transglutaminase TGK. OBSERVATIONS: A high expression of loricrin and involucrin with a peculiar and abnormal cytoplasmic staining concurred with a diminished cytoplasmic staining of transglutaminase TGK as assessed by antibodies B.C.1 and K.D.3. This pattern was absent in a collodion baby at birth but present 2 weeks later before a phenotype of lamellar ichthyosis appeared clinically. CONCLUSIONS: The results suggest that in our cases of lamellar ichthyosis, (1) disturbed membrane anchorage of transglutaminase TGK could alter loricrin and involucrin cross-linkage and the formation of the cornified cell envelope and that (2) immunohistologic study might serve as an early diagnostic and prognostic tool in the treatment of collodion babies.

Cell Membrane↗