Wrinkly skin syndrome: Difference between revisions

Revision as of 19:27, 22 March 2025

A rare genetic disorder characterized by loose, wrinkled skin and other systemic features

Wrinkly skin syndrome (WSS) is a rare genetic disorder that is primarily characterized by loose, wrinkled skin, particularly noticeable on the hands and feet. It is part of a spectrum of conditions known as cutis laxa syndromes, which involve connective tissue abnormalities. WSS is inherited in an autosomal recessive manner and is associated with mutations in the ATP6V0A2 gene.

Clinical Features

Individuals with wrinkly skin syndrome typically present with a variety of clinical features, which may include:

Cutaneous Manifestations: The most prominent feature is the presence of loose, wrinkled skin, especially on the dorsal surfaces of the hands and feet. The skin may also appear thin and translucent.
Skeletal Abnormalities: Patients may exhibit joint laxity, which can lead to dislocations and other orthopedic issues. Some individuals may have osteopenia or osteoporosis.
Facial Dysmorphism: Characteristic facial features may include a high forehead, prominent ears, and a long philtrum.
Growth Retardation: Affected individuals often experience growth delays, resulting in short stature.
Neurological Involvement: Some patients may have developmental delays or intellectual disabilities.
Ocular Abnormalities: Eye problems such as strabismus or myopia may be present.

Genetics

Wrinkly skin syndrome is caused by mutations in the ATP6V0A2 gene, which encodes a component of the vacuolar ATPase (V-ATPase) complex. This complex is involved in acidifying intracellular compartments, which is crucial for various cellular processes. The mutations lead to defects in glycosylation, affecting the structure and function of connective tissues.

Diagnosis

The diagnosis of wrinkly skin syndrome is based on clinical evaluation and genetic testing. A detailed family history and physical examination are essential. Genetic testing can confirm the diagnosis by identifying mutations in the ATP6V0A2 gene.

Management

There is no cure for wrinkly skin syndrome, and treatment is primarily supportive. Management strategies may include:

Dermatological Care: Regular skin care to manage dryness and prevent infections.
Orthopedic Interventions: Physical therapy and orthopedic support to manage joint laxity and prevent dislocations.
Developmental Support: Early intervention programs and educational support for developmental delays.
Regular Monitoring: Routine follow-up with a multidisciplinary team to monitor growth, development, and any emerging complications.

Prognosis

The prognosis for individuals with wrinkly skin syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate management, many individuals can lead relatively normal lives, although they may require ongoing medical care.

Related Pages

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+{{Short description|A rare genetic disorder characterized by loose, wrinkled skin and other systemic features}}
-'''Wrinkly skin syndrome''' '''(WSS)''' is a rare genetic condition.
+'''Wrinkly skin syndrome''' (WSS) is a rare [[genetic disorder]] that is primarily characterized by loose, wrinkled skin, particularly noticeable on the hands and feet. It is part of a spectrum of conditions known as [[cutis laxa]] syndromes, which involve connective tissue abnormalities. WSS is inherited in an [[autosomal recessive]] manner and is associated with mutations in the [[ATP6V0A2]] gene.
-== Clinical features ==
+==Clinical Features==
-It is characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanel (soft spot) closure along with a range of other symptoms.
+Individuals with wrinkly skin syndrome typically present with a variety of clinical features, which may include:
-[[File:Labeled layers of the skin.jpg|thumb|312x312px|Layers of the skin. Wrinkly skin syndrome affects both the papillary and reticular dermis.]]
-Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Other associated signs and symptoms vary widely. Case reports suggest that this condition is often inherited in an autosomal recessive fashion. It can be caused by mutations in the ATP6VOA2 gene. Wrinkly skin syndrome appears to be represent the mild version of autosomal recessive cutis laxa syndrome type 2.
-In many cases the underlying genetic cause of wrinkly skin syndrome is not known. Some cases are caused by mutations in the ATP6VOA2 gene. These gene mutations result in an abnormality in glycosylation. Glycosylation is a chemical process that occurs in your body's cells that involve attaching sugar molecules to proteins. Mutations in ATP6VOA2 can also cause autosomal recessive cutis laxa syndrome type 2 (ARCL type 2). Some consider wrinkly skin syndrome to be a mild variant of ARCL type 2.
+* '''Cutaneous Manifestations''': The most prominent feature is the presence of loose, wrinkled skin, especially on the dorsal surfaces of the hands and feet. The skin may also appear thin and translucent.
+* '''Skeletal Abnormalities''': Patients may exhibit joint laxity, which can lead to dislocations and other orthopedic issues. Some individuals may have [[osteopenia]] or [[osteoporosis]].
+* '''Facial Dysmorphism''': Characteristic facial features may include a high forehead, prominent ears, and a long philtrum.
+* '''Growth Retardation''': Affected individuals often experience growth delays, resulting in short stature.
+* '''Neurological Involvement''': Some patients may have developmental delays or intellectual disabilities.
+* '''Ocular Abnormalities''': Eye problems such as [[strabismus]] or [[myopia]] may be present.
-== Diagnosis ==
+==Genetics==
-Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
+Wrinkly skin syndrome is caused by mutations in the [[ATP6V0A2]] gene, which encodes a component of the vacuolar ATPase (V-ATPase) complex. This complex is involved in acidifying intracellular compartments, which is crucial for various cellular processes. The mutations lead to defects in glycosylation, affecting the structure and function of connective tissues.
-== Testing Resources ==
+==Diagnosis==
-The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
+The diagnosis of wrinkly skin syndrome is based on clinical evaluation and genetic testing. A detailed family history and physical examination are essential. Genetic testing can confirm the diagnosis by identifying mutations in the ATP6V0A2 gene.
-== Prognosis ==
+==Management==
-Unfortunately much of what is known regarding wrinkly skin syndrome comes from individual case reports. There is very limited information regarding the long term outlook for people with this syndrome. Also there can be great variability of symptoms, particularly regarding growth delay, developmental delay, and neurological abnormalities. Some affected individuals have developed seizures and mental deterioration later in life. Skin symptoms may become milder with age.
+There is no cure for wrinkly skin syndrome, and treatment is primarily supportive. Management strategies may include:
-== Complications in Diagnosis ==
+* '''Dermatological Care''': Regular skin care to manage dryness and prevent infections.
-Several symptoms are shared with cutis laxa type II (CLT2) including wrinkling of skin, microcephaly, and developmental delay which has made proper diagnosis difficult in several cases.<ref name=":4">{{Cite journal|last=Gupta|first=Neerja|last2=Phadke|first2=Shubha R.|date=May 2006|title=Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes|url=http://dx.doi.org/10.1111/j.1525-1470.2006.00222.x|journal=Pediatric Dermatology|volume=23|issue=3|pages=225–230|doi=10.1111/j.1525-1470.2006.00222.x|issn=0736-8046}}</ref> However, the severity of skin abnormalities and facial dysmorphia is greater in cutis laxa type II.<ref name=":4" />
+* '''Orthopedic Interventions''': Physical therapy and orthopedic support to manage joint laxity and prevent dislocations.
+* '''Developmental Support''': Early intervention programs and educational support for developmental delays.
+* '''Regular Monitoring''': Routine follow-up with a multidisciplinary team to monitor growth, development, and any emerging complications.
-== Additional Diagnostics ==
+==Prognosis==
-Accurate diagnosis of Wrinkly Skin Syndrome generally requires specialized dermatological assessment.
+The prognosis for individuals with wrinkly skin syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate management, many individuals can lead relatively normal lives, although they may require ongoing medical care.
-* [[x-ray]]s to identify joint abnormalities
+==Related Pages==
-* ophthalmologic evaluation of hypertelorism, downslanting eyes, and myopia
+* [[Cutis laxa]]
-* [[Magnetic resonance imaging of the brain|brain MRI]] scans to evaluate the degree of microcephaly
+* [[Genetic disorder]]
-* genetic screening for [[Congenital disorder of glycosylation|Congenital Disorders of Glycosylation]] (CDG)
+* [[Connective tissue disease]]
-* skin biopsy and histological analysis
+* [[Autosomal recessive inheritance]]
-* genetic screening for mutations in the ATP6VOA2 gene
-The pigmentation patterns observed in skin biopsies reveal a characteristic lack of elastic fibers in the papillary dermis and clumping of elastic fibers in the reticular dermis.
+[[Category:Genetic disorders]]
+[[Category:Dermatology]]
-=== The Importance of the ATP6V0A2 Pump ===
+[[Category:Rare diseases]]
-Vacuolar ATPases ([[V-ATPase]]) regulate the pH of the subcellular compartments found within the endosomal membrane system.
-=== The Function of the Golgi Apparatus in Protein Maturation ===
-The most important subcellular structure in the context of wrinkly skin syndrome (WSS), is the [[Golgi apparatus]].
-=== Genetic Causes of WSS ===
-Patients with both [[missense]] and/or [[nonsense]] mutations of the ''ATP6V0A2'' gene have been shown to phenotypically express wrinkly skin syndrome (WSS) or autosomal recessive cutis laxa type II (ARCL II) (another cutis laxa disorder).
-=== Aberrant Golgi Functioning and Clinical Symptoms of WSS ===
-WSS is characterized by defects in the elastic fiber system that comprises the extracellular matrix of epidermal cells.
-== See also ==
-* [[Ehlers–Danlos syndrome]]
-*[[Cutis laxa|Cutis Laxa]] Type II
-* [[List of cutaneous conditions]]
-[[Category:Abnormalities of dermal fibrous and elastic tissue]]
-[[Category:Syndromes]]