Mutation analysis of the PNPLA1 gene in three families with congenital ichthyosiform erythroderma / 中华皮肤科杂志

Objective:To detect gene mutations in 3 Chinese families with congenital ichthyosiform erythroderma.Methods:Exome sequencing of peripheral blood DNA was performed for 3 probands clinically diagnosed with congenital ichthyosiform erythroderma by using a gene panel targeting hereditary skin diseases to identify mutation sites. Primers were designed according to the mutation sites for PCR amplification, and Sanger sequencing was performed to verify the mutations in probands and other family members in order to identify the cause of the disease.Results:The probands 1 and 2 presented with generalized skin dryness and scaling, and polygonal dark brown scales on the extensor aspect of the lower limbs; the proband 3 mainly presented with well-circumscribed erythema, papules and scales scattered on the trunk and extremities. All probands denied family history of similar diseases. Genetic testing showed that the proband 1 carried compound heterozygous mutations c.100G>A and c.377G>A in the PNPLA1 gene, which were inherited from her mother and father respectively; the proband 2 carried compound heterozygous mutations c.320T>A and c.434T>C in the PNPLA1 gene, which were inherited from her mother and father respectively; a homozygous mutation c.1300delG was identified in the PNPLA1 gene in the proband 3. The mutations co-segregated with the disease phenotypes in the two families with compound heterozygous mutations. Among the 5 identified mutations, the two missense mutations (c.377G>A and c.320T>A) were firstly reported.Conclusion:Biallelic mutations in the PNPLA1 gene are the causative mutations responsible for autosomal recessive congenital ichthyosis in the three probands, and the newly reported mutations expand the mutation spectrum in the disease.

Chanarin-Dorfman syndrome: the first case reported in China / 中华皮肤科杂志

Objective:To detect gene mutations and make a diagnosis in a family with ichthyosis accompanied by liver injury.Methods:Clinical data were collected from the proband, and genomic DNA was extracted from peripheral blood samples from the proband and his parents. Exome sequencing was performed in the proband by using a gene panel targeting hereditary skin diseases to identify mutation sites, and then the candidate mutation site was verified by PCR and Sanger sequencing in the family members. Results of peripheral blood smear examination and other auxiliary examinations were collected from the proband and his parents and analyzed.Results:The proband presented with generalized dry skin and tiny white scales on the lower limbs, accompanied by elevated transaminase levels, mild sensorineural hearing loss in both ears and fatty liver. Exome sequencing revealed a homozygous mutation c.933dupA in exon 6 of the ABHD5 gene encoding CGI-58 protein in the peripheral blood genomic DNA of the proband, resulting in a frameshift mutation p.R312Tfs*45 in the amino acid sequence. Heterozygous mutations at this site were identified in his father and mother. The mutation cosegregated with the disease phenotype in the family. The peripheral blood smear examination of the proband showed lipid vacuoles in neutrophils, which were called Jordan anomaly. Conclusion:The diagnosis of Chanarin-Dorfman syndrome was made in the proband based on the presentation of ichthyosis-like skin lesions and abnormal liver function, as well as the homozygous mutation in the ABHD5 gene and Jordan anomaly in peripheral blood smears.

Annular epidermolytic ichthyosis: a case report and literature review

Abstract Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who developed migratory, erythematous, scaly plaques associated with palmoplantar keratoderma. The initial hypothesis was erythrokeratodermia variabilis et progressiva; however, the finding of epidermolytic hyperkeratosis in histopathological examination led to the diagnosis of annular epidermolytic ichthyosis.

Collodion baby-congenital ichthyosis: clinical review

Collodion baby is a rare form of congenital ichthyosis in which the entire body is covered by a parchment-like membrane. These neonates are at the risk of dehydration, sepsis, electrolyte disturbances, and temperature instability. It is inherited in autosomal recessive manner. We report a case of Collodion baby, born of a consanguineous marriage. Here, we present a short review of this condition and the various methods available for the prenatal diagnosis. A literature search was done using PubMed, Medline, and Google Scholar databases using the mesh terms 'Ichthyosis', 'collodion baby', 'collodion membrane', 'Congenital ichthyosiform erythroderma', and 'Lamellar ichthyosis'.

Collodion Baby With Congenital Bilateral Ectropion And Eclabion- Rare Presentation

Congenital Ichthyosiform Erythroderma- an extremely rare dermatological condition with an estimated incidenceof 1 in 50,000 to 100,000 birth. There is defective Stratum corneum barrier associated with collodion membranewhen the baby moves from an amniotic fluid to external dry environment during parturition. The membranedessicates and peels off. This condition is due to mutations in Transglutaminase1, ALOX genes, ABCA12, Ichthyin,ABHD5.

Analysis of keratin 1 gene mutation and phenotypes in a pair of twins with bullous congenital ichthyosiform erythroderma / 中华皮肤科杂志

Objective To identify mutations in keratin genes (KRT1 and KRT10) in a pair of twins with bullous congenital ichthyosiform erythroderma (BCIE),and to explore the relationship between the causative genes and phenotypes.Methods Clinical data were collected from a pair of twins with BCIE and their family members.Peripheral blood samples were obtained from the twins,their old brother and parents,and DNA was extracted from these blood samples.Polymerase chain reaction (PCR)was performed to amplify all the coding exons and their flanking sequences of the KRT1 and KRT10 genes,and 100 unrelated healthy persons served as controls.Results The 11-year-old male proband presented with recurrent blisters,hypertrophy and desquamation all over the body for 11 years.His twin brother had similar skin lesions.Skin examination of the proband showed diffuse erythema covered with thick scaly crusts on the trunk and extremities.Blisters,bullae and erosions due to ruptured blisters were observed locally with tenderness on palpation.There were obvious hyperkeratotic and hard lesions on the big joints of the extremities.Diffuse hyperkeratosis could be seen on the palms and soles.A mutation c.591 + 1G ＞ A was identified at position 1 in intron 1 of the KRT1 gene in the twins,but not in the 3 healthy family members or the 100 unrelated healthy controls.Conclusion The mutation c.591 + 1G ＞ A at position 1 in intron 1 of the KRT1 gene may contribute to the clinical phenotype of the twins with BCIE.

Cisto ductal de glândula lacrimal em paciente com eritrodermia ictiosiforme congênita / Ductal cyst of lacrimal gland in patient with congenital ichthyosiform erythroderma

Resumo A ictiose lamelar é uma doença congênita de herança autossômica recessiva que se caracteriza clinicamente por descamação de toda a superfície corporal devido hiperceratose mucocutânea que pode levar a comprometimento oftalmológico. Neste estudo relatamos um caso de cisto ductal de glândula lacrimal em paciente portador de ictiose lamelar atendido no Hospital Oftalmológico de Anápolis.

Abstract Lamellar ichthyosis is a congenital disease autosomal recessive which is characterized clinically by peeling of all the body surface due hyperkeratosis mucocutaneous that can cause ocular involvement. We reported a case of ductal cyst of the lacrimal gland in patient with lamellar ichthyosis attended in the Ophthalmological Hospital of Anápolis.

Eritrodermia ictiosiforme congénita no ampollosa asociada a pénfigo vegetante. Presentación de caso / No bullous congenital ichthyosiform erythroderma associated to vegetating pemphigus. Case presentation

Fundamento: La eritrodermia ictiosiforme congénita no ampollosa es una genodermatosis que está presente desde el nacimiento y el pénfigo vegetante es una enfermedad ampollar que aparece en edades tempranas de la vida, las manifestaciones clínicas de estas entidades son diferentes, ambas son infrecuentes cuando se presentan aisladamente, mucho más cuando aparecen en un mismo paciente. Objetivo: Describir el caso de un paciente con eritrodermia ictiosiforme congénita no ampollosa y pénfigo vegetante por ser una situación clínica rara por su incidencia. Presentación de caso: Paciente de 28 años, con antecedentes de padecer de eritrodermia ictiosiforme congénita no ampollosa, que comenzó a desarrollar ampollas y al romperse dejaban erosiones que más tarde dieron lugar a vegetaciones hipertróficas y papilomatosas. Para arribar al diagnóstico se tuvo en cuenta el criterio clínico y la histopatología. Conclusiones: La eritrodermia ictiosiforme congénita no ampollosa y el pénfigo vegetante son entidades infrecuentes en la práctica médica, mucho más cuando se presenten ambas en un mismo paciente.

Background: The non-bullous congenital ichthyosiform erythroderma is a genodermatosis that is present from the birth and the vegetating pemphigus is a bullous disease that occurs at early ages of life, the clinical manifestations of these entities are different, both are uncommon when they are presented in isolation, much more when they appear in a patient Objective: To describe the case of a patient with a non-bullous congenital ichthyosiform erythroderma and vegetating pemphigus a strange clinical situation for their incidence. Case presentation: Patient of 28 years, with antecedents of suffering of non-bullous congenital ichthyosiform erythroderma that began to develop blisters and when breaking they left erosions that later gave place to hypertrophic and papillomatous vegetation. To arrive to the diagnosis was kept in mind the clinical approach and the histopathology. Conclusions: The non-bullous congenital ichthyosiform erythroderma and the vegetating pemphigus are uncommon entities in the medical practice, much more when both are presented in a patient.

Ictiosis congénita tipo laminar: reporte de un caso / Congenital lamellar ichthyosis: a case report

INTRODUCCIÓN: La ictiosis tipo laminar es una enfermedad dermatológica infrecuente perteneciente al grupo de las llamadas genodermatosis. Es una forma de ictiosis congénita que es evidente desde el nacimiento. PRESENTACIÓN DEL CASO: Recién nacido por cesárea, sexo masculino, de 36 semanas de gestación, adecuado para la edad gestacional y con APGAR 8. Antecedentes familiares: padres no consanguíneos y hermano con ictiosis tipo laminar. Luego de nacer es hospitalizado en la Unidad de Neonatología del Hospital de San Fernando, por presentar piel de aspecto rojo brillante, engrosada en cara y parte anterior de tronco con algunas fisuras en zona torácica, sin presencia de láminas de queratina, por lo que estableció el diagnóstico clínico de ictiosis tipo laminar. Se manejó con precauciones de contacto, analgesia, lubricación de la piel y suplementación con ácido retinoico. Evolucionó con descamación y aumento delas fisuras, las que posteriormente empezaron a disminuir quedando una membrana residual y con una adecuada hidratación de piel. Durante su estadía presentó alzas febriles intermitentes por lo que se realizó un hemocultivo que fue positivo a Staphylococcus aureus y cultivos de axilas, ombligo y zona inguinal que resultaron positivos para Enterococcus y Staphylococcus aureus, iniciando tratamiento con Vancomicina. Luego de 7 días de tratamiento, evolucionó favorablemente con disminución de sus lesiones dermatológicas por lo que se dio alta médica. DISCUSIÓN: El diagnóstico oportuno en base al cuadro clínico y manejo adecuado de este paciente ha permitido una adecuada evolución en ausencia de complicaciones.

INTRODUCTION: Lamellar Ichthyosis is a rare skin diseases belonging to the Group of the so-called genodermatoses. It is a form of congenital ichthyosis evident at birth. CASE REPORT: Male neonate, born at 36 weeks of gestation via cesarian section, appropriate for gestational age and Apgar Score 8. Nonconsanguineous parents. Affected brother with Ichthyosis lamellar. Is hospitalized in the Neonatal Intermediary Care Unit of the Hospital of San Fernando due to presence of Glossy red skin, thicker in face and fissures in the chest without collodion membrane. The patient was diagnosed with Lamellar Ichthyosis. Treatment was initiated with insolations precautions, pain relievers and lubrication of the skin, as well as retinoic acid supplementation. Progressed with cracked skin and scaling that subsequently improves leaving a residual membrane and an adequate skin hydration. During his stay, he also presented intermittent fever. Blood culture was positive for Staphylococcus aureus. Skin cultures of Armpits, navel and groin were positive for Enterococcusand Staphylococcus aureus, so treatment with vancomycin was started. After 7 days of antibiotic treatment and a favourable evolution with evident improvement of his skin lesions, the patient was discharged from hospital for outpatient management. DISCUSSION: Early diagnosis based on clinical presentation and an appropriate management of this patient, allowed an adequate evolution in the absence of complications.

A Case of Congenital Ichthyosiform Erythroderma

No abstract available.

A Sporadic Case of Ichthyosis Bullosa of Siemens

Few cases of ichthyosis bullosa of Siemens(IBS) have been reported since 1939, as a distinct entity from bullous congenital ichthyosiform erythroderma(BCIE). IBS can be differentiated from BCIE by the absence of congenital erythroderma and a different distribution of involved skin area. It's characteristic features include blistering, superficial erosion or moulting of the outer skin. Histological features are tonofilaments aggregation confined to the granular and upper spinous layer of the epidermis. However, in BCIE these findings are present in the whole suprabasal compartment. The original reports of Siemens and cases from other authors showed an autosomal dominant inheritance. Our patient developed IBS sporadically without a familial background.

Electron Microscopic and Immunohistochemical Comparative Studies of Bullous Congenital Ichthyosiform Erythroderma and Epidermal Nevus Histologically Showing Epidermolytic Hyperkeratosis / 대한피부과학회지

BACKGROUND: Although the histologic picture of epidermolytic hyperkeratosis is diagnostic for bullous congenital ichthyosiform erythrokerma (BCIE), it is not specific for it. It is found also in several other conditions, that is, linear epidermal nevus, epidermolytic keratisis palmaris et plantaris and epidermolytic acnthoma. Among these, BCIE is caused by mutations of the defferentiation s0pecific keratins K1 and K1-. These mutations produce a weakened cytoskeleton that is prone to collapse resulting I cell fragility and lysis. But the pathogenesis of epidermal nevus showing the similar histologic feature with BCIE is not known. OBJECTIVE: The purpose of our study is to conpare the electron microscopic picture and the immunohistochemical features, and to find the possible pathogenesis of both diseases. METHODS: We evaluated the clinical, histopathologic nd electron microscopic features of 5 BCIE cases and 14 epidermal nevus cases which were histologically diagnosed with epidermolytic hyperkeratosis at the department of dermatology at Wonju Christian Hospital, Shinchon Severance Hospital and Yongdong Severance Hospital, from January 1981 to June 1994. The immunohistochemical staining(PAP method) using monoclonal antibody against cytokeratin was performed on BCIE and epidermal nevus. RESULTS: Light microscopy of both BCIE and epidermal nevus showed the same histologic changes including hyperkeratosis, increased keratohyaline granules, acanthosis and perinuclear vacuolization of upper malpighia layer. Electron mioroscopic findings in both diseases were similar. Aggregation of tonofilaments is noted in the squamous cells, but is not evident in basal cells.In immunohistochemical study of both diseases, 34betaE12 is stained in the whole epidermis and is stuonger ex0ressed in the basal layer tan suprabasal layers. LP34 staining is evident in suprabasal cell layers up to the cornified cell layer. CONCLUSION: Electron microscopy and immunohistochemical study of both diseases showed the same finding. We thind that a defect in the differentiation specific keratins, K1 and K10 is perhaps involved in epidermal nevus histologically showing epidermolytic hyperkeratosis as in BCIE.