Ichthyosis with Laminated Membrane Structures

Km, Niemi; Kanerva, Lasse

doi:10.1097/00000372-198911020-00007

Cited by 18 publications

(4 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The origin of the perinuclear vacuoies in the keratinocytes is difficult to explain. An ultrastructural study of a patient with ichthyosis showing vacuolization was reported in the literature (9). There are some differences: the vacuoies in our patients had a different structure, namely, a single unit membrane; their origin also seems different, as the keratinosomes were normal.…”

Section: Discussionmentioning

confidence: 59%

Trichothiodystrophy: Ultrastructural Studies of Two Patients

Calvieri

Rossi

Amorosi

et al. 1993

Pediatric Dermatology

View full text Add to dashboard Cite

An 18-month-old and an 8-year-old girl had trichothiodystrophy (TTD). Microscopic observation of the hair under polarized light showed typical alternation of bright and dark bands; amino acid analysis of the hair demonstrated a marked reduction of cystine levels. Both patients had skin lesions consisting in the older child of diffuse follicular keratosis since birth, and in the younger of an ichthyosiform dermatitis on the lower legs that appeared at age 4 months. Ultrastructural studies of the skin showed striking similarities in both cases: perinuclear vacuoles with a unit membrane in the keratinocytes, and dispersed, irregularly arranged bundles of tonofilaments particularly at the desmosome junction. The origin of the vacuoles is unknown; the abnormalities of the tonofilaments could be explained on the basis of a generalized abnormality in sulfur-containing proteins, reflecting a disturbance in the synthesis of keratins. These electron microscopy findings could be considered as a peculiar feature of ichthyotic skin in patients with TTD.

show abstract

Section: Discussionmentioning

confidence: 59%

Trichothiodystrophy: Ultrastructural Studies of Two Patients

Calvieri

Rossi

Amorosi

et al. 1993

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

“…Another important issue is the minimal quantity of fetal skin samples sufficient for prenatal diagnosis. A review of the literature (Arnold et al, 1988;Duperrat et al, 1977;Larregue et al, 1976Larregue et al, ,1986Niemi and Kanerva, 1989) has demonstrated that in hereditary ichthyoses of the congenital group skin damage is often generalized in the form of the 'collodian baby'. Proceeding from the above, two skin biopsy specimens from different anatomical sites may be sufficient for prenatal diagnosis of non-bullous ichthyosiform congenital erythroderma.…”

Section: Resultsmentioning

confidence: 99%

Fetal skin biopsy in prenatal diagnosis of some genodermatoses

et al. 1990

View full text Add to dashboard Cite

Various methods of obtaining fetal skin for prenatal diagnosis of certain autosomal-recessive congenital genodermatoses have been assessed. An attempt was made to obtain fetal skin by fetoscopy in 15 patients prior to pregnancy termination for a variety of medical reasons at 18-26 weeks. Specimens were obtained only in five cases (8 successful attempts out of 48). In twelve cases, of which five had a history of a child with junctional (Herlitz type) or dystrophic (Hallopeau-Siemens type) epidermolysis bullosa or non-bullous congenital ichthyosiform erythroderma at 16-25 weeks of pregnancy, fetal skin was obtained without fetoscopy under direct ultrasonic control. Specimens were obtained in all cases (33 successful attempts out of 39). In three cases, fetal pathology was diagnosed by the method of semi-thin and ultra-thin skin sections, and the respective pregnancies were terminated.

show abstract

“…Thus, under light microscopy, I. vulgaris displays an absence of stratum granulosum (below SC) and in EI and ichthyosis with confetti due to various keratin mutations a clumping of intermediate filaments is seen, occasionally leading to cytolysis of suprabasal keratinocytes. However, in most other types of ichthyosis, electron microscopy (EM) is required to disclose the histopathological hallmarks (5)(6)(7)(8)(9)(10)(11).…”

Section: Microscopic Exploration Of Ichthyosismentioning

confidence: 99%

“…In ARCI, for example, 4 distinctive ultrastructural patterns are identifiable in the granular and corneal layers of the epidermis: EM type 1 (lipid droplets), probably related to epidermal hyperproliferation ( 5 ); EM type 2 (“cholesterol clefts”( 6 )), typically associated with TGM1 mutations ( 12 ); EM type 3 (abnormal lamellar bodies and elongated membranes ( 7 )), often associated with NIPAL4 mutations ( 9 ); and, EM type 4 (aggregated lipid membranes), exclusively associated with SCL27A4 mutations ( 13 , 14 ). Furthermore, HI and related conditions due to ABCA12 mutations often show prominent distortions of the lamellar bodies ( 11 , 15 ).…”

Section: Microscopic Exploration Of Ichthyosismentioning

confidence: 99%

Ichthyosis: A Road Model for Skin Research

Vahlquist¹,

Törmä²

2020

Acta Derm Venerol

View full text Add to dashboard Cite

Ichthyosis refers to skin diseases with scaling somewhat reminiscent of fish scales (Greek: ichthus=fish). There are more than 50 genetic types of, mostly non-syndromic, ichthyosis, ranging in severity and frequency from mild and common (prevalence < 1%) to severe and rare (< 0.001%). In the latter case, babies are often born with a thick horny layer (collodion), dermal inflammation and impaired skin barrier function, requiring intensive medical care. Nearly all patients with ichthyosis require daily applications of cream, sometimes complemented with retinoid tablets. This review highlights recent progress in the understanding of the causes and consequences of ichthyosis, which may lead to better care and treatments. The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit epidermal inflammation, hyperproliferation and hyperkeratosis, potentially contributing to the patient's skin symptoms. Despite this and other new knowledge about pathomechanisms, treatment of ichthyosis often remains unsatisfactory. This review highlights a series of approaches used to elucidate the pathobiology and clinical consequences of different types of ichthyosis, and related diseases with the ultimate goal of finding new and better treatments.

show abstract

Ichthyosis with Laminated Membrane Structures

Cited by 18 publications

References 0 publications

Trichothiodystrophy: Ultrastructural Studies of Two Patients

Trichothiodystrophy: Ultrastructural Studies of Two Patients

Fetal skin biopsy in prenatal diagnosis of some genodermatoses

Ichthyosis: A Road Model for Skin Research

Contact Info

Product

Resources

About