Plate-like Scales Research Articles

Recurrent Harlequin Ichthyosis in a Family: A Case Report

Introduction: Harlequin ichthyosis is a severe form of erythrodermic ichthyosis that manifests in a distinctive and distressing appearance at birth. The newborn baby is covered in thick, plate-like scales with distorted surface features, resulting in limited mobility. Fortunately, this condition is rare, with an estimated incidence of approximately 1 in 300,000 births. It is inherited in an autosomal recessive manner and is caused by a mutation in the adenosine triphosphate binding cassette subfamily A member 12 (ABCA12) gene. This mutation affects lipid transport, and the activity of ABCA12 is crucial to produce long-chain ceramides, which are essential for the development of a normal skin barrier. Methods: We present a case report of a newborn who presented with thick, firmly adherent dense plaques covering the entire body, accompanied by deep fissures that extended into the dermis. The facial features included severe ectropion, conjunctival chemosis, eclabium, tethered ears, and a rudimentary nose. In addition, there was flexion contracture of the arms, legs, and digits, along with hypoplastic nails. Results: The baby experienced respiratory difficulty, poor sucking, and a severe cutaneous infection. Unfortunately, the baby’s condition deteriorated and passed away on the 20th day after delivery. Conclusion: Previously considered universally fatal, harlequin ichthyosis now has reported cases of survivors, although it remains a challenging condition. It is crucial to provide parents and family with comprehensive information about the implications of the condition. They should be encouraged to explore all available options and receive psychological support throughout the process. It is essential for the neonatal intensive care unit staff to be trained in providing specialized care for these babies. In addition, parents should be offered the option of antenatal counseling, particularly in cases where there is a previously affected sibling or a history of consanguinity.

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan. Materials and Methods: A consanguineous family with lamellar ichthyosis was enrolled from Balochistan, Pakistan. PCR amplification of all the exons and splice site junctions of the TGM1 gene followed by Sanger sequencing was performed on the genomic DNA. The identified variant was checked by In silico prediction tools to evaluate the effect of the variant on protein. Results: Sanger sequencing identified a homozygous nonsense variant c.131G >A (p.Trp44*) in the TGM1 gene that segregated in the autosomal recessive mode of inheritance in the family. The identified variant results in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity, causing a severe clinical phenotype of lamellar ichthyosis in the patients. Conclusions: Here, we report a consanguineous lamellar ichthyosis family with a homozygous nonsense variant in the TGM1 gene. The variant is predicted as pathogenic by different In silico prediction tools.

HI (HARLEQUIN ICHTHYOSIS) BABY

HI is a very rare type of genetical abnormality but can be seen and scared by seeing various social media footages. It is associated with deletion and truncation mutations of a keratinocyte lipid transporter. Harlequin disorder is categorized by diffuse epidermal hyperkeratinization along with defective desquamation. During birth, the HI phenotype is conspicuous with thick hyperkeratotic plate-like scales with deep dermal ssures, severe ectropion and eclabium, among other ndings. In this ichthyosis marked eclabium and ectropion are present secondary to the taut as well as in the unyielding skin. The ears may be inattentive, absent or poorly developed. Even the arms, feet, and digits have exion contractures and may be hypoplastic. The skin wall is harshly compromised, leading to undue water loss, causes electrolyte abnormalities, temperature alteration and an increased risk of deadly infection. Some of the primary treatments are smearing retinoids application for shedding the hard and scaly skin, topical antibiotics application can prevent infection, insertion an ET tube in the airway to assistance with breathing, applying lubricating eye drops or protective devices on the eyes. Following ongoing treatment like humidied incubator (for premature infants), continuous monitoring of TPR and SpO2, early intubation(optional), frequent cultures of the skin should be taken for lab testing, monitoring serum electrolyte levels, maintaining a germ-free environment to evade infection etc.

Management of ocular manifestations of harlequin ichthyosis in the perinatal period

Harlequin Ichthyosis (HI) is a severe and rare genetic disorder caused by mutations on the ABCA12 gene on chromosome 2 (2q34). Dysfunction of this gene, involved in the regulation of protein synthesis required for skin barrier function, leads to extreme hyperkeratosis. Patients present with thick plate-like scales separated by deep cracks (fissured hyperkeratosis) leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen and extremities with subsequent high morbidity and mortality during the neonatal period. Cicatricial ectropion may result in exposure keratopathy and severe ocular surface pathology. There is limited literature describing management of this ocular manifestation.

Reinstatement of Lepidochromonas Kristiansen (Lepidochromonadaceae fam. nov., Chrysophyceae)

The chrysophycean genus Lepidochromonas Kristiansen was established to accommodate a single species, Ochromonas diademifera E. Takah. characterized by cells covered by both plate-like scales and crown-shaped scales. Subsequently Lepidochromonas has been synonymized with Paraphysomonas De Saedeleer. Currently, the genus Paraphysomonas is restricted to the species with nail-like spine scales and species with basket-like scales have been removed to a newly described genus Clathromonas Scoble & Caval.-Sm. referred to the monotypic family Clathromonadidae Scoble & Caval.-Sm. Although both Clathromonas and Clathromonadidae are valid under the International Code of Zoological Nomenclature they are illegitimate names according to the rules of the International Code of Nomenclature for algae, fungi and plants. Here we reinstate the genus Lepidochromonas as it has priority over Clathromonas, and we propose 30 new nomenclatural combinations. The formal description of a new family Lepidochromonadaceae fam. nov. is also provided.

Ichthyosis Vulgaris

Ichthyosis Vulgaris

Lamellar ichthyosis in a female neonate without a collodion membrane

The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling at birth. The defective skin barrier function may lead to dehydration, body temperature instability, and high susceptibility to infections. In most cases of ARCI, neonates are born with a collodion membrane covering the body, often presenting with ectropion and eclabium. We report a premature female neonate presenting with hyperkeratotic scaling at birth without a collodion membrane. She was managed with placement in a humidified isolette, prophylactic antibiotics, dilute bleach baths, petrolatum ointment, and artificial eye drops. By the fourth week of life, there was marked improvement in her skin with the large, brown, plate-like scales on the trunk and extremities becoming lighter in color and finer in appearance. The ichthyosis genetic panel showed mutations in the ABCA12 gene resulting in the lamellar ichthyosis phenotype of ARCI. Our literature review revealed at least 28 patients with ARCI who were not born as collodion babies. Although collodion babies are a hallmark of most ARCI cases, clinicians should be aware of neonates with ARCI born without a collodion membrane and expedite appropriate workup and treatment.

Facial features in Harlequin ichthyosis: Clinical findings about 4 cases

We report 4 cases of Harlequin ichthyosis, which is a rare and severe congenital ichthyosis involving the face. Facial appearance consists in severe ectropion, conjonctival edema, eclabium, flattened ears, broadened nose and large, thick, plate-like skin scales. Recent advances in neonatal care have been made, such as retinoid therapy, and have led to an increased survival rate. Early surgical correction of ectropion may be required because of ocular complications.

Harlequin Ichthyosis: A Brief Discussion

Harlequin ichthyosis is an extremely rare and historically lethal congenital disorder of the skin caused by abnormal keratinization. There are serious implications for the family to consider: the high risk that their newborn will die soon, as well as future family planning issues. Linked to deletion and truncation mutations of a keratinocyte lipid transporter, HI is characterized by diffuse epidermal hyperkeratinization and defective desquamation. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium. Over the first months of life, the hyperkeratotic covering is shed, revealing a diffusely erythematous, scaly epidermis, which persists for the remainder of the patient's life. Although HI infants have historically succumbed in the perinatal period related to their profound epidermal compromise, the prognosis of HI infants has vastly improved over the past 20 years. Research into the molecular genetics and pathomechanisms of ichthyoses has advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease. In this review, the pathogeneses of various ichthyoses are summarized based on their revised classification and terminology. It is important to obtain information concerning genetic defects and to elucidate ichthyotic disease, pathomechanisms for the establishment of an effective therapy and beneficial genetic counseling, including a prenatal diagnosis for families affected by ichthyotic disease. This article reviews the embryology and currently understood pathophysiology of the disease, as well as current methods used to diagnose and treat these infants.

A new species of sculpin, Zesticelus ochotensis (Scorpaeniformes: Cottidae), from the Southwestern Okhotsk Sea

A new cottid species,Icelus ecornis, is described on the basis of 31 specimens collected from 159–226 m in the southwestern Okhotsk Sea off Hokkaido, Japan. It is distinguished from all other members of the genusIcelus by the following combination of characters: no supraocular and parietal spines; short blunt nuchal spine; cirri absent from head and body, except for supraocular, parietal and nuchal regions; platelike scales of dorsal row bearing 6–10 long uniform spinules; tubular lateral line scales bearing small spines on dorsal and posterior margins; large oval black spot on first dorsal fin; 16–20 anal fin rays.

The integument of Psittacosaurus from Liaoning Province, China: taphonomy, epidermal patterns and color of a ceratopsian dinosaur

Preserved skin of small dinosaurs is rare. Here, a specimen of the ceratopsian dinosaur, Psittacosaurus, presents some of the best preserved epidermal scales observed to date in a relatively small dinosaur, over wide areas extending from the head to the tail. We study the preserved epidermis of SMF R 4970, the different types of scales, color, and patterns, and their respective locations in the body. We use modern application of high-power digital imaging for close-up analysis of the tubercles and fragments of preserved color. Three types of scales are preserved, large plate-like scales, smaller polygonal scales or tubercles, and round pebble-like scales. The sizes of the plate-like scales vary in different parts of the body and vanish altogether posteriorly. Light and dark cryptic patterns are created by the associations of the tubercle and plate-like scales, and there is also evidence of countershading in the proximal caudal region, the body darker dorsally and lighter ventrally. Perhaps most impressive are the distinctive pigmented impressions of scales over most of the skeletal elements. The pigmentation follows the curvature of the bones implying that when it was deposited, the skin was still pliable and able to wrap around the visible parts of the elements. The present record of color is the first in a non-theropod dinosaur and only the second record in a non-avian dinosaur. Because of its resistance to degradation and ability to produce various color tones from yellows to blacks, we suggest that melanin was the dominant chemical involved in the coloration of Psittacosaurus. The data here enable us to reconstruct the colors of Psittacosaurus as predominantly black and amber/brown, in cryptic patterns, somewhat dull, but useful to a prey animal. Indeed, skin pigment within a partially degraded bone indicates that Psittacosaurus was scavenged shortly after death. The theropod dinosaur Sinosauropteryx has recently been reported to have naturally pigmented integumental structures, which the authors interpret as proof that they are protofeathers and not support fibers of collagen. Our findings in Psittacosaurus, on the other hand, indicate a more parsimonious and less profound alternative explanation, i.e., decomposition of the skin releases pigments that readily permeate underlying structures.

Perinatal management of harlequin ichthyosis: a case report and literature review

Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis. Linked to deletion and truncation mutations of a keratinocyte lipid transporter, HI is characterized by diffuse epidermal hyperkeratinization and defective desquamation. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium, among other findings. Over the first months of life, the hyperkeratotic covering is shed, revealing a diffusely erythematous, scaly epidermis, which persists for the remainder of the patient's life. Although HI infants have historically succumbed in the perinatal period related to their profound epidermal compromise, the prognosis of HI infants has vastly improved over the past 20 years. Here, we report a case of HI treated with acitretin, focusing on the multi-faceted management of the disease in the inpatient setting. A review of the literature of the management of HI during the perinatal period is also presented.

Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

Background:Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. Mutations in the transglutaminase-1 (TGM1) gene, which encodes for the epidermal enzyme transglutaminase-1 (TGase-1), are one of the...

Disorders of keratinization: diagnosis and management.

Disorders of cornification are a group of diseases that share abnormalities in the manufacture or desquamation of corneocytes. This paper reviews the major and a few of the rarer ones with a concentration on their therapy. Ichthyosis vulgaris is probably a post-translational defect in pro-filaggrin expression. It shows fine white flaky scales of the extensor surfaces, trunk, flank, lower legs but spares the folds and wet areas. Treatment is with aggressive moisturization. Hydrocortisone creams may be needed to control itch. Recessive X-linked ichthyosis is due to a deficiency of cholesterol sulfatase. Boys with this condition show small dark scales around the ears, sides of the neck, extensor surfaces of the arms and legs, and the peri-umbilical region. It spares the folds and face. Treatment is with moisturizers, topical retinoid creams or with topical cholesterol-based creams. Checking for signs of contiguous gene disorders (Kallman or Conradi-Hunermann syndromes) is necessary. Bullous congenital ichthyosiform erythroderma is caused by mutations in keratins 1 and/or 10. These patients are born as bright red babies with large blisters and erosions. Slowly, a porcupine quill-like waxy scaling develops. Blistering continues throughout life. Secondary infections of the skin cause pain, debility, and a very foul odor. Treatment is difficult. Topical moisturizers, descalers and retinoid creams help a little. Oral retinoids help a lot but can cause increased blistering. Controlling the odor is an ongoing issue using antibacterial washes, absorbing powders, and masking fragrances. Autosomal recessive ichthyosis is a term for both lamellar ichthyosis and congenital ishthysosiform erythroderma. They are caused by various mutations in transglutaminase-1 gene. In both instances patients are born as 'collodion babies'. Lamella ichthyosis has the very recognizable plate-like scale over the entire body. Children with congenital ishthysosiform erythroderma are red all over with a finer scale in some places and plate-like scales in others. Treatment is with topical moisturizers, retinoid creams, descalers, and in some cases oral retinoids. Palmar plantar keratodermas occur in conjunction with some ichthyoses, but also by themselves. Some are diffuse and others have discrete, corn-like hardenings. Treatment with topical acids, propylene glycol and retinoid creams help to some extent.Throughout the article pearls from my practice are included to assist the clinician in the day-to-day handling of these patients. A short section on genetic counseling concludes this article.

Allocation of Populations of Whiptail Lizards toseptemvittatusCope, 1892 (GenusCnemidophorus) in Chihuahua, México, and thescalarisProblem

Abstract We used 11 samples comprising 224 specimens collected between 1966 and 1999 in Chihuahua, Mexico, and Texas to clarify aspects of color pattern and meristic variation in the notoriously difficult gonochoristic Cnemidophorus gularis-scalaris-septemvittatus complex which is characterized by enlarged mesoptychial scales and enlarged and platelike postantebrachial scales. We allocated populations represented in all SEPT-CMX samples except SEPT-CMX5 from northeastern Chihuahua to Cnemidophorus gularis septemvittatus Cope, 1892, type locality Marfa, Presidio County, Texas, represented by sample SEPT-TUS1. This allocation adds 28 newly discovered sites in Chihuahua to the single valid record previously known for the taxon in that state. Our study revealed that three taxonomically distinct forms, one in Trans-Pecos Texas east of Alamito Creek, Presidio County, and another in southern Coahuila, Mexico (both beyond the scope of this study), were included in septemvittatus in a 1962 taxonomic revision. Clar...

Ichthyosis in a nutshell.

1. Tor Shwayder, MD* 1. 2. *Director, Pediatric Dermatology, Henry Ford Hospital and Children’s Hospital of Michigan; Assistant Professor of Pediatrics and Dermatology, Wayne State University School of Medicine, Detroit, MI. After completing this article, readers should be able to: 1. Characterize the presentation of ichthyosis vulgaris. 2. Describe the presentation of recessive x-linked ichthyosis and the syndrome with which it is associated. 3. Describe the presentation and etiology of epidermolytic hyperkeratosis. 4. Identify and describe the two major autosomal recessive primary ichthyoses and their etiologies. 5. the primary technique for dry skin care. The ichthyoses are a heterogeneous group of diseases that share one presentation: scaly skin. Not too long ago, all patients who exhibited this characteristic were lumped into one group. In reality, there are differences ranging from localized to generalized scaling; spiny to flat scales; tiny to huge and plate-like scales; and blistering or redness beneath the scale. Careful observation, histopathology, genetics, and biochemistry allow ichthyoses to be categorized into several classes. The term “ichthyosis” comes from the Greek, meaning fish. To understand the ichthyoses, one must be familiar with the internal to external progression of normal skin. Ichthyoses represent abnormalities in the formation and desquamation of the keratinocytes, the most common epidermal cell. The epidermis is arranged in four layers: basal cell, squamous cell (or spiny), granular, and horny. As keratinocytes progress from the basal layer to the horny layer, different keratin proteins are manufactured. Keratins form a structural framework inside the cell that holds the shape similarly to steel girders inside a blimp. As skin tissue matures and moves outward, the keratin proteins are manufactured in a predictable sequence, but mutations can lead to keratins that have different size, shape, and assembly defects, which can affect the size and shape of the cell. At the basal layer, keratin types 5 and 14 are expressed, and as the cell moves up, keratins 1 and 10 are expressed in the spinous and granular layers. Depending on where the genetic error in keratin coding …

A new species of sculpin,Icelus ecornis (Scorpaeniformes: Cottidae) from the southwestern Okhotsk Sea

A new cottid species,Icelus ecornis, is described on the basis of 31 specimens collected from 159–226 m in the southwestern Okhotsk Sea off Hokkaido, Japan. It is distinguished from all other members of the genusIcelus by the following combination of characters: no supraocular and parietal spines; short blunt nuchal spine; cirri absent from head and body, except for supraocular, parietal and nuchal regions; platelike scales of dorsal row bearing 6–10 long uniform spinules; tubular lateral line scales bearing small spines on dorsal and posterior margins; large oval black spot on first dorsal fin; 16–20 anal fin rays.

Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.

Nonbullous congenital ichthyosiform erythroderma (CIE) and classic lamellar ichthyosis (LI) can be distinguished by clinical, histopathologic, and biochemical findings reported herein. Whereas all patients with CIE (n = 12) had fine white scales, they were heterogeneous with respect to degree of erythroderma, ectropion, and prognosis. In contrast, all patients with LI (n = 6) had large, dark, platelike scales, severe ectropion that showed no improvement with age, and minimal erythroderma. Although the stratum corneum of patients with LI was two to three times thicker than that of those with CIE, the latter group demonstrated more acanthosis, parakeratosis, hypergranulosis, and less prominent dermal capillaries. Studies of scale-lipid content have indicated biochemical correlates of this clinical heterogeneity. These clinical, histologic, and biochemical findings provide useful guidelines to differentiate CIE from LI and strongly suggest that autosomal recessive primary ichthyosis comprises two distinct diseases.