Scoliosis and other spinal deformities may also be present. [scielo.br]

Figure 1 Clinical presentation of the affected individual: (a) Pedigree showing all individuals investigated in the present study. (b, c) Facial appearance of the index patient II-1. [nature.com]

On the other hand, the ADCL pattern is multifarious in presentation between the onset of childhood and adult life [4]. [cureus.com]

Patients with cutis laxa, especially Type II, present facial features that must be considered in the planning of airway management, pulmonary emphysema, cor pulmonale, and right-sided heart failure. [accesspediatrics.mhmedical.com]

Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, the clinical presentation and mode of inheritance is heterogeneous. [igenomix.eu]

• Amyloidosis

  Respiratory Distress Syndrome, Surfactant Metabolism Dysfunction AR 100% 286 of 289 ARHGEF1 Immunodeficiency AR 90.23% 2 of 2 ATM Ataxia-telangiectasia AD,AR 99.93% 1608 of 1632 ATP11A IdiopathicPulmonary Fibrosis – 99.97% NA of NA B2M Familial Visceral Amyloidosis [igenomix.es]

  Cutis laxa in hereditary gelsolin amyloidosis. Br J Dermatol 2005; 152: 250–257. CrossRef PubMed CAS Google Scholar Loeys B, van Maldergem L, Mortier G et al. [link.springer.com]

  Cutis laxa associated with amyloidosis. Clin Exp Dermatol. 1986 Jan. 11(1):87-91. [QxMD MEDLINE Link]. Tan S, Pon K, Bargman J, Ghazarian D. Generalized cutis laxa associated with heavy chain deposition disease. [emedicine.medscape.com]

• Slurred Speech

  Neurological regression can be associated with a variety of symptoms including slurred speech, an inability to coordinate voluntary movements (ataxia), and increased muscle tone and stiffness (spasticity). [rarediseases.org]

A child with dislocated hips who has an underlying soft-tissue disorder might be expected to fail orthopedic treatment, and two patients early in our series were denied treatment on this basis. [annsaudimed.net]

Early initiation of treatment with a multidisciplinary team in the form of medical treatment and surveillance to prevent complications and/or surgical care or redundant skin folds and other organic manifestations. [igenomix.eu]

Following 24 months of bisphosphonate treatment a total restitution of bone density was observed in three cases and no relapse was detected in the 2-year follow-up period. A spontaneous improvement was found in one female during puberty. [read.qxmd.com]

Case Reports Decreased bone density and treatment in patients with autosomal recessive cutis laxa C Noordam et al. Acta Paediatr. 2009 Mar. [pubmed.ncbi.nlm.nih.gov]

Acquired cutis laxa type II, also called Marshall syndrome, has been reported as secondary to Sweet syndrome (acute febrile neutrophilic dermatosis) in a child. [11] Treatment No treatment exists to prevent disease progression, although dapsone can be [emedicine.medscape.com]

Poor prognosis. Synonym Cutis Laxa, Emphysema, and Hemolytic Anemia Syndrome; Emphysema Hemolytic Anemia Syndrome. Incidence Extremely rare. Some 200 families have been reported in literature until now. [accesspediatrics.mhmedical.com]

Igenomix Cutis Laxa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis [igenomix.eu]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Early referral of these patients to receive medical and surgical treatment in a specialized medical center would be the main course to determine the prognosis and to avoid more systemic complications. [cureus.com]

Prognosis The lifespan of some patients with cutis laxa (elastolysis) may not be significantly decreased. Patients with the autosomal dominant form have a normal life expectancy. [emedicine.medscape.com]

Prevalence, etiology and clinical findings of Cushing's syndrome. Endocrinol Nutr 2009;56(1):32-39. 106. Beauregard C, Dickstein G, Lacroix A. Classic and recent etiologies of Cushing's syndrome: diagnosis and therapy. [intechopen.com]

Occurrence/Epidemiology This section has been translated automatically. To date, < 20 affected individuals from seven unrelated families have been described in the literature suffering from ALDH18A1-related cutis laxa. [altmeyers.org]

Epidemiology Cutis laxa (elastolysis) is rare. Congenital forms of cutis laxa are more common than acquired disease. The recessively inherited form is most frequent and most severe. Autosomal dominant forms also exist. [emedicine.medscape.com]

Inheritance and epidemiology The reports that both male and females are affected by CLGDD, GO and WSS, along with the recurrence of affected individuals in the same sibship with normal parents and the presence of parental consanguinity lead to the conclusion [scielo.br]

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005; 42:881–892. CrossRef PubMed CAS Google Scholar Le Boulanger G, Labreze C, Croue A et al. G. [link.springer.com]

Pathophysiology Cutis laxa (elastolysis) is characterized by degenerative changes in the elastic fibers resulting in loose, pendulous skin. The skin is sagging, redundant, and stretchable, with reduced elastic recoil. [emedicine.medscape.com]

Early initiation of treatment with a multidisciplinary team in the form of medical treatment and surveillance to prevent complications and/or surgical care or redundant skin folds and other organic manifestations. [igenomix.eu]

In addition, some subtypes of cutis laxa have only been reported in a handful of individuals, which prevents physicians from developing a complete picture of associated symptoms and prognosis. [rarediseases.org]

Acquired cutis laxa type II, also called Marshall syndrome, has been reported as secondary to Sweet syndrome (acute febrile neutrophilic dermatosis) in a child. [11] Treatment No treatment exists to prevent disease progression, although dapsone can be [emedicine.medscape.com]

Final diagnosis should not be confirmed in infancy and clinical information, periodic reevaluation and radiological assessment must be carefully made in order to prevent misdiagnosis. [scielo.br]

Therefore, the integral treatment of both entities includes hormone replacement that to a certain extent, will improve bone mass and will prevent or delay the development of osteoporosis [263, 264]. Advertisement 3. [intechopen.com]