Clinical Presentation of a Patient with Congenital Cutis Laxa and Abnormal Thyroid Hormone Levels

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

We describe a case of generalized cutis laxa (CL) in a 7-year-old female child. At 2 months of age, she was found to have a hoarse voice, and at 3 years, she was much smaller than her peers. Her aging face and short stature caught our attention, and the treatment of the patient was accepted by our hospital. She underwent a thorough examination. X-ray of the wrist bone showed a markedly delayed bone age, and thyroid function tests revealed significantly elevated free triiodothyronine 3 and free thyroxine 4 levels, but thyrotropin was within the normal range. Thyroid dysfunction and CL can be associated with lagged growth and development. Whether her abnormal development was due to thyroid dysfunction or CL could not be ascertained. CL is possibly more complex than it has been supposed so far, and is therefore worth to be further studied.

Related collections

Most cited references 10

Record: found
Abstract: found
Article: not found

Neuroendocrinology of the skin.

A. Slominski, J Wortsman (2000)

The classical observations of the skin as a target for melanotropins have been complemented by the discovery of their actual production at the local level. In fact, all of the elements controlling the activity of the hypothalamus-pituitary-adrenal axis are expressed in the skin including CRH, urocortin, and POMC, with its products ACTH, alpha-MSH, and beta-endorphin. Demonstration of the corresponding receptors in the same cells suggests para- or autocrine mechanisms of action. These findings, together with the demonstration of cutaneous production of numerous other hormones including vitamin D3, PTH-related protein (PTHrP), catecholamines, and acetylcholine that share regulation by environmental stressors such as UV light, underlie a role for these agents in the skin response to stress. The endocrine mediators with their receptors are organized into dermal and epidermal units that allow precise control of their activity in a field-restricted manner. The skin neuroendocrine system communicates with itself and with the systemic level through humoral and neural pathways to induce vascular, immune, or pigmentary changes, to directly buffer noxious agents or neutralize the elicited local reactions. Therefore, we suggest that the skin neuroendocrine system acts by preserving and maintaining the skin structural and functional integrity and, by inference, systemic homeostasis.

0 comments Cited 99 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Cutis laxa: a review.

David Berk, Danette Bentley, Susan Bayliss … (2012)

Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Both acquired and inherited forms exist, some of which have significant systemic manifestations. Here, we review the various forms of cutis laxa, with focus on the inherited forms. Recent molecular studies have provided many new insights into the causes of cutis laxa and revealed greater genetic heterogeneity than previously appreciated. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

0 comments Cited 41 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Autosomal recessive cutis laxa syndrome revisited.

Mailys Guillard, Eva Morava-Kozicz, Dirk Lefeber … (2009)

The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major diagnostic criteria is to detect abnormal elastin fibers. In several other clinically similar autosomal recessive syndromes, however, the classic histological anomalies are absent, and the definite diagnosis remains uncertain. In cutis laxa patients mutations have been demonstrated in elastin or fibulin genes, but in the majority of patients the underlying genetic etiology remains unknown. Recently, we found mutations in the ATP6V0A2 gene in families with autosomal recessive cutis laxa. This genetic defect is associated with abnormal glycosylation leading to a distinct combined disorder of the biosynthesis of N- and O-linked glycans. Interestingly, similar mutations have been found in patients with wrinkly skin syndrome, without the presence of severe skin symptoms of elastin deficiency. These findings suggest that the cutis laxa and wrinkly skin syndromes are phenotypic variants of the same disorder. Interestingly many phenotypically similar patients carry no mutations in the ATP6V0A2 gene. The variable presence of protein glycosylation abnormalities in the diverse clinical forms of the wrinkled skin-cutis laxa syndrome spectrum necessitates revisiting the diagnostic criteria to be able to offer adequate prognosis assessment and counseling. This paper aims at describing the spectrum of clinical features of the various forms of autosomal recessive cutis laxa syndromes. Based on the recently unraveled novel genetic entity we also review the genetic aspects in cutis laxa syndromes including genotype-phenotype correlations and suggest a practical diagnostic approach.

0 comments Cited 27 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (publisher-id): CDE

Journal ID (pmc): CDE

Journal ID (doi): 10.1159/issn.1662-6567

Title: Case Reports in Dermatology

Publisher: S. Karger AG

ISSN (Electronic): 1662-6567

Publication date Subscription-year: 2014

Publication date Collection: January – April 2014

Publication date (Electronic): 17 February 2014

Volume: 6

Issue: 1

Pages: 43-48

Affiliations

Departments of ^aDermatology and Venerology and ^bPathology, The Second Clinical Medical College, Shanxi Medical University, Taiyuan, China

Author notes

*Dr. Yan Ma, Department of Dermatology and Venerology The Second Clinical Medical College, Shanxi Medical University, 382 Wuyi Road, Xinghualing District, Taiyuan, Shanxi 030001 (China), E-Mail mayan197522@163.com

Article

Publisher ID: 360125 Pmcid ID: PMC3975211 Other ID: Case Rep Dermatol 2014;6:43-48

DOI: 10.1159/000360125

PMC ID: PMC3975211

PubMed ID: 24707249

SO-VID: 77064db9-7840-475e-8e42-27e2c5e7bc17

License:

Open Access License: This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) ( http://www.karger.com/OA-license), applicable to the online version of the article only. Distribution permitted for non-commercial purposes only. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

Are you tired of sifting through news that doesn't interest you?
Personalize your Karger newsletter today and get only the news that matters to you!

Sign up