CONGENITAL CUTIS LAXA: A RARE GENODERMATOSIS

2021 ◽  
pp. 20-21
Author(s):  
Vinaya Ajaykumar Singh ◽  
Mazhar Khan ◽  
Poonam Wade ◽  
Navina Desai ◽  
Sushma Malik
Keyword(s):  
Metabolic Disorders ◽  
Skin Diseases ◽  
Febrile Illness ◽  
Menkes Disease ◽  
Female Child ◽  
Severe Form ◽  
Cutis Laxa ◽  
Facial Features ◽  
Elastic Tissue ◽  
Tissue Abnormalities

Cutis Laxa (CL) / generalized elastolysis / dermatomegaly is a heterogeneous group of disorders which are related to elastic tissue abnormalities. Depending on extent of abnormal elastic tissue, it may be mild or severe. Severe form presents with loose, inelastic, wrinkled skin resembling ill tted suit. Infant has characteristic facial features like old man appearance, a hooked nose, a short columella, a long upper lip with long philtrum, and everted lower eyelids. CL is categorised as congenital or acquired and the inheritance can be autosomal dominant or recessive, or X linked. Occasionally a few metabolic disorders like Menkes disease, disorders of glycosylation are associated with Congenital CL. Acquired cutis laxa has developed after a febrile illness and various inammatory skin diseases. Here we present a case of a full-term SGA (small for gestational age) female child born with features of CL.

scholarly journals Neonatal diabetes mellitus: remission induced by novel therapy

2019 ◽  
Vol 12 (6) ◽  
pp. e228806
Author(s):  
Pradip Dalwadi ◽  
Ameya S Joshi ◽  
Darshana Sudip Thakur ◽  
Nikhil M Bhagwat
Keyword(s):  
Diabetes Mellitus ◽  
Febrile Illness ◽  
Neonatal Diabetes ◽  
Female Child ◽  
Insulin Requirement ◽  
Megaloblastic Anaemia ◽  
Neonatal Diabetes Mellitus ◽  
Haematological Parameters ◽  
Thiamine Hydrochloride ◽  
Novel Therapy

A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6 months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11 months of age with diabetic ketoacidosis due to an intercurrent febrile illness. Her haematological parameters showed megaloblastic anaemia and thrombocytopenia. Therefore a possibility of Thiamine Responsive Megaloblastic Anaemia (TRMA) syndrome was considered. She was empirically treated with parenteral thiamine hydrochloride (Hcl). Subsequently, due to the unavailability of pharmacological preparation of oral thiamine Hcl in a recommended dose she was treated with benfotiamine. She had a sustained improvement in all her haematological parameters on oral benfotiamine. The insulin requirement progressively reduced and she is currently in remission for last 2 years. The genetic analysis confirmed the diagnosis of TRMA syndrome. Thus benfotiamine can be considered a new treatment option in management of TRMA syndrome.

scholarly journals Are X–linked cutis laxa and Menkes disease allelic?

1993 ◽  
Vol 3 (1) ◽  
pp. 6-6 ◽  
Author(s):  
Barbara Levinson ◽  
Jane Gitschier ◽  
Christopher Vulpe ◽  
Susan Whitney ◽  
Samuel Yang ◽  
...  
Keyword(s):  
Menkes Disease ◽  
Cutis Laxa

scholarly journals Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management

2021 ◽  
Vol 8 ◽  
Author(s):  
Paul Thomas ◽  
Aparna Venugopalan ◽  
Siddharth Narayanan ◽  
Thomas Mathew ◽  
Lakshmi Parvathi Deepti Cherukuwada ◽  
...  
Keyword(s):  
Matrix Protein ◽  
Genetic Disorder ◽  
Female Child ◽  
Aortic Aneurysms ◽  
Cutis Laxa ◽  
Extracellular Matrix Protein ◽  
Successful Outcome ◽  
High Morbidity ◽  
Aortic Diseases ◽  
Thoracic Aortic Aneurysms

Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause. We report a rare occurrence of severe thoracic aortic aneurysms (involving the ascending, arch and descending aortic segments) with severe aortic insufficiency in a 7-year-old female child secondary to the extremely rare and often lethal genetic disorder, cutis laxa. She was eventually identified as a carrier of a homozygous EFEMP2 (alias FBLN4) mutation. This gene encodes the extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B that leads to severe aortopathy with aneurysm formation and vascular tortuosity. Parents of the child were not known to be consanguineous. Significant symptomatic improvement in the patient could be discerned after timely intervention with the valve-sparing aortic root replacement (David V procedure) and a concomitant aortic arch replacement. This is a unique report with a successful outcome that highlights the occurrence of a rare hereditary aortopathy associated with a high morbidity and mortality, and the importance of an early diagnosis and timely management. It also offers insight to physicians in having a very broad differential and multimodal approach in handling rare pediatric cardio-pathologies with a genetic predisposition.

scholarly journals ROLE OF VIRECHANA KARMA (THERAPEUTIC PURGATION) IN PSORIASIS: A CLINICAL STUDY

2021 ◽  
pp. 1-3
Author(s):  
Mishra Meenu ◽  
Sharma Ankita ◽  
Shivhare Shwetal ◽  
Sharma Vivek
Keyword(s):  
Total Population ◽  
Skin Diseases ◽  
Uv Light ◽  
Symptomatic Relief ◽  
Severe Form ◽  
Mechanical Trauma ◽  
Single Group ◽  
Treatment Observation

Background: The skin or the integument is the external organ that protects against mechanical trauma, UV light and infections. The prevalence of skin diseases in India is 10 to 12% of the total population with psoriasis being the major contributor, in India it ranges from 0.44% to 2.8%. In Ayurveda all skin diseases come under the concept of Kushta. Psoriasis has a high resemblance with Ekkushta, which is the type of Kshudrakushta (less severe form of the Kushta). Skin diseases considered as Pitta Doshaja and Rakta Dhatu Pradoshaja Vikara. Acharya Charaka stated that Virechana is the great treatment for Pitta predominance diseases. Aim: To study the role of Virechana Karma in the management of Ekkushta (Psoriasis). Material and Methods: A single group of 5 diagnosed patients of Ekkushta (Psoriasis) were registered at the Kayachikitsa OPD of Pt. Khushilal Sharma Govt. (Auto.) Ayurvede Hospital Bhopal. The patients were treated with Virechana Karma. Duration of study is 21 days and follow up after completion of trial every week for 1 month. Assessment was done on the basis of symptomatic relief after treatment. Observation: The overall effect of the Virechana Karma in all patients suggested that, complete cure was not in any patient. One patient was mild improved, one patient was markedly improved and three patients were moderately improved. None of patients remained unchanged. Conclusion On the basis of this clinical trial it can be concluded that Virechana Karma works effectively in the management of psoriasis.

scholarly journals Child with post COVID MISC presenting with atypical Kawasaki like features in a rural medical college

2021 ◽  
Vol 8 (2) ◽  
pp. 377
Author(s):  
Poovendhan Ravivarma ◽  
Vimalraj Vijayakumar ◽  
. Ramanathan
Keyword(s):  
Inflammatory Markers ◽  
Pediatric Population ◽  
Febrile Illness ◽  
Absolute Lymphocyte Count ◽  
Female Child ◽  
Igg Antibody ◽  
Medical College ◽  
Reactive Protein ◽  
Inflammatory Syndrome

COVID-19 in pediatric population is often milder but a segment of cases tend to worsen out and present with pediatric multi system inflammatory syndrome. Here we present a 3 year-old female child presenting with acute febrile illness, generalized rashes with loose stools. On examination child was in fluid refractory shock requiring vasoactives, oxygen by non-rebreather mask, antibiotics and other supportive. Investigations revealed neutrophilic leukocytosis, with normal absolute lymphocyte count, thrombocytopenia and elevated inflammatory markers with negative COVID real time-polymerase chain reaction (RT PCR) and positive COVID immunoglobulin G (IgG) antibody, suggesting a post COVID-19 sequelae. Children presenting with multisystem inflammatory syndrome in children (MIS-C) most often have a silent course of acute COVID infection. Lymphopenia and thrombocytosis are not always associated with MIS-C. COVID antibody with inflammatory markers like C-reactive protein (CRP), D-dimer plays an important role in the management and during follow up. More pediatric studies are needed regarding the role of aspirin in MIS-C with Kawasaki disease overlap, choice of anticoagulant in a thrombocytopenic child and any markers which could predict the development of MIS-C during acute COVID infection.

TRACHEOBRONCHIOMEGALY AND ACQUIRED CUTIS LAXA IN A CHILD

PEDIATRICS ◽  
1969 ◽  
Vol 44 (5) ◽  
pp. 709-715
Author(s):  
Alan A. Wanderer ◽  
Elliot F. Ellis ◽  
Robert W. Goltz ◽  
Ernest K. Cotton
Keyword(s):  
Respiratory Tract Infections ◽  
Medical Literature ◽  
Tracheobronchial Tree ◽  
Cutis Laxa ◽  
Elastic Fibers ◽  
Elastic Tissue ◽  
Elastic Recoil ◽  
Lower Respiratory Tract Infections ◽  
Tract Infections ◽  
Immunologic Status

Tracheohronchiomegaly and acquired cutis laxa are described in a 14-year-old boy. Marked dilatation of the tracheobronchial tree associated with recurrent lower respiratory tract infections has been reported chiefly in the adult medical literature as the Mounier-Kuhn syndrome. Cutis laxa is a rare elastic tissue disorder that involves the skin and other systems. While the etiology of tracheobronchiomegaly is unknown, the coexistence of two rare conditions in the same patient suggtsts a common fundamental elastic tissue defect. The investigative studies revealed abnormal elastic fibers in the skin, increased thoracic gas volumes, abnormal pulmonary elastic recoil, and a normal immunologic status except for increased serum and parotid IgA levels.

Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes

Blood ◽  
2002 ◽  
Vol 99 (1) ◽  
pp. 30-35 ◽  
Author(s):  
Athanasios Aessopos ◽  
Dimitrios Farmakis ◽  
Dimitris Loukopoulos
Keyword(s):  
Late Onset ◽  
Tissue Injury ◽  
Pseudoxanthoma Elasticum ◽  
Medical Specialty ◽  
Clinical Syndrome ◽  
Elastic Tissue ◽  
Organ Systems ◽  
High Prevalence ◽  
Tissue Abnormalities ◽  
Research Challenge

The development of clinical and histopathologic manifestations of a diffuse elastic tissue defect, resembling inherited pseudoxanthoma elasticum (PXE), has been encountered with a notable frequency in patients with β thalassemia, sickle cell disease, and sickle thalassemia. The PXE-like clinical syndrome, consisting of skin, ocular, and vascular manifestations, has a variable severity in these hemoglobinopathies and it is age-dependent, with a generally late onset, after the second decade of life. The defect is believed to be acquired rather than inherited and related to the consequences of the primary disease. The high prevalence of the findings implicates the elastic tissue injury as one of the main comorbid abnormalities encountered in β thalassemia and the sickling syndromes. In these patients a number of complications, sometimes serious, has been recognized to be related to ocular and vascular elastic tissue defects. Because several organ systems are involved, each medical specialty should be aware of the phenomenon. This coexistence, on the other hand, introduces a novel pathogenetic aspect of PXE and an important research challenge.

scholarly journals Clinical Presentation of a Patient with Localized Acquired Cutis Laxa of Abdomen: A Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Tugomir Gverić ◽  
Marko Barić ◽  
Vedrana Bulat ◽  
Mirna Šitum ◽  
Jana Pušić ◽  
...  
Keyword(s):  
Case Report ◽  
Cesarean Section ◽  
Surgical Procedures ◽  
Reconstructive Surgery ◽  
Clinical Picture ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Cutis Laxa ◽  
Elastic Tissue ◽  
Prior Cesarean Section

Background. Cutis laxa (CL) is a rare disorder of elastic tissue characterized by loose, sagging skin with reduced elasticity, and resilience without resulting scarring. CL may be inherited as a dominant, recessive, or X-linked recessive disease, or acquired. The heritable forms of CL predominantly begin at birth, but it may be delayed until puberty or age of 30 years with extracutaneous manifestations including pulmonary emphysema, umbilical and inguinal hernias, and gastrointestinal and vesicourinary tract diverticuli. An acquired form of the disease occurs in adults with no evidence of internal organ involvement.Objective. The aim of this case report was to present our patient suffering from CL, and to evaluate clinical presentation, diagnostic and therapeutic difficulties in this rare condition.Case Report. A 30-year-old female patient was admitted to our Hospital due to localized loose and sagging skin of abdomen, induced by prior cesarean section 6 years ago. CL has been diagnosed based on the clinical picture and pathohistological appearance.Conclusion. Reconstructive surgery provides a dramatic cosmetic improvement with significant psychosocial benefit. Repeated surgical procedures may be required to correct the lax skin, which worsens with age.

scholarly journals Keratin 20 Helps Maintain Intermediate Filament Organization in Intestinal Epithelia

2003 ◽  
Vol 14 (7) ◽  
pp. 2959-2971 ◽  
Author(s):  
Qin Zhou ◽  
Diana M. Toivola ◽  
Ningguo Feng ◽  
Harry B. Greenberg ◽  
Werner W. Franke ◽  
...  
Keyword(s):  
Skin Diseases ◽  
Wild Type ◽  
Regulatory Domains ◽  
Intestinal Epithelia ◽  
Unusual Distribution ◽  
Keratin Filaments ◽  
Equivalent Residue ◽  
Keratin Filament ◽  
Small Intestinal Villus ◽  
Tissue Abnormalities

Of the >20 epithelial keratins, keratin 20 (K20) has an unusual distribution and is poorly studied. We began to address K20 function, by expressing human wild-type and Arg80→His (R80H) genomic (18 kb) and cDNA K20 in cells and mice. Arg80 of K20 is conserved in most keratins, and its mutation in epidermal keratins causes several skin diseases. R80H but not wild-type K20 generates disrupted keratin filaments in transfected cells. Transgenic mice that overexpress K20 R80H have collapsed filaments in small intestinal villus regions, when expressed at moderate levels, whereas wild-type K20-overexpressing mice have normal keratin networks. Overexpressed K20 maintains its normal distribution in several tissues, but not in the pancreas and stomach, without causing any tissue abnormalities. Hence, K20 pancreatic and gastric expression is regulated outside the 18-kb region. Cross-breeding of wild-type or R80H K20 mice with mice that overexpress wild-type K18 or K18 that is mutated at the conserved K20 Arg80-equivalent residue show that K20 plays an additive and compensatory role with K18 in maintaining keratin filament organization in the intestine. Our data suggest the presence of unique regulatory domains for pancreatic and gastric K20 expression and support a significant role for K20 in maintaining keratin filaments in intestinal epithelia.

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