wrinkly skin syndrome

Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle closure. The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events.

Key Features:

• Sagging, wrinkled skin
• Low skin elasticity
• Delayed fontanelle (soft spot) closure
• Abnormal glycosylation events due to mutations in the ATP6V0A2 gene

Additional Symptoms:

• Increased number of palmar and plantar creases
• Wrinkled abdominal skin
• Multiple skeletal abnormalities, including joint laxity and congenital hip dislocation
• Late closing of the anterior fontanel
• Microcephaly (small head size)
• Pre- and postnatal growth retardation
• Developmental delay

Facial Features:

• Broad nasal bridge
• Hypertelorism (increased distance between the eyes)
• Downslanting palpebral fissures (eyes)

These symptoms can vary widely among individuals with WSS, but they often become more pronounced during early childhood. The skin findings may decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some cases.

References:

• [1] 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). [2]
• [3] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene. [4]
• [5] Other associated signs and symptoms vary widely, including increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities, late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay, and facial dysmorphism. [6]
• [7] Case reports suggest that this condition is often inherited in an autosomal recessive fashion. [8]
• [9] At birth, hypotonia, overfolded skin, and distinctive facial features are present, and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some cases. [10]

Wrinkly skin syndrome, also known as cutis laxa, is a rare genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a soft spot on the top of the head). The symptoms of wrinkly skin syndrome can vary in severity and may include:

• Sagging skin: The skin may appear loose and wrinkled, particularly on the face, neck, and hands.
• Reduced skin elasticity: The skin may lose its ability to snap back into place after being stretched.
• Delayed closure of the fontanel: In infants and young children, the soft spot on top of the head may take longer than usual to close.
• Palmar and plantar creases: The palms of the hands and soles of the feet may have an increased number of wrinkles or creases.

According to [8], wrinkly skin syndrome is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases. Additionally, patients with this condition may experience [9]:

• Male: 1 in 4900 ≈ 0.02% of the US population
• Female: 1 in 2090 ≈ 0.048% of the US population
• All: 1 in 2750 ≈ 0.036% of the US population

It's worth noting that these statistics are based on estimates from [9], which reports data from patient visits to healthcare providers from NAMCS and NHAMCS, weighted for USA healthcare demographics, 2006 to 2007.

References: [8] - Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases. [9] - Patients with symptom in a given year: | male | female | all fraction of US population | 1 in 4900 ≈ 0.02% | 1 in 2090 ≈ 0.048% | 1 in 2750 ≈ 0.036% number of US patients | 36600 per year | 118100 per year | 154800 per year average patient age | 57 years | 54 years | 55 years symptom sample size | 4 visits | 28 visits | 32 visits (estimates based on 131748 patient visits to healthcare providers from NAMCS and NHAMCS, weighted for USA healthcare demographics, 2006 to 2007)

Diagnostic Tests for Wrinkly Skin Syndrome

Wrinkly skin syndrome (WSS) is a rare genetic condition that can be challenging to diagnose due to its rarity and symptom overlap with other dermatological conditions. However, several diagnostic tests can help confirm the diagnosis.

• Genetic testing: Molecular genetic testing can confirm a diagnosis of an inherited form of cutis laxa and establish the presence of mutations in the ATP6VOA2 gene [14]. This test is particularly useful for identifying carriers of the condition.
• Sequence analysis: Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Intergen Genetic Diagnosis and Research Centre can also be used to diagnose WSS [12].
• Clinical Molecular Genetics test: This test is specifically designed for diagnosing Wrinkly skin syndrome and involves sequence analysis of the entire coding region, NGS/MPS [12].

Other diagnostic tests

While not specific to WSS, other diagnostic tests may be used in conjunction with genetic testing to rule out other conditions that may present similar symptoms. These include:

• Dermatological examination: A thorough dermatological examination can help assess the extent of skin wrinkling and identify any other associated signs and symptoms [2].
• Imaging studies: Imaging studies such as X-rays or CT scans may be used to evaluate skeletal abnormalities, joint laxity, and congenital hip dislocation [2].

Specialized diagnostic teams

In some cases, a team of specialists may be involved in diagnosing WSS. These teams may include:

• Dermatology
• Cardiology
• Gastroenterology

It's essential to consult with a healthcare professional for an accurate diagnosis and to determine the best course of action.

References: [1] - Not provided [2] - Context 2 [12] - Context 12 [14] - Context 14

Based on the provided context, it appears that there is no specific drug treatment for wrinkly skin syndrome (WSS). However, some treatments may be used to manage its symptoms.

• No cure: Unfortunately, WSS is a genetic condition, and as such, there is no known cure. [13][14]
• Symptom management: Treatment for WSS typically focuses on managing the symptoms rather than curing the underlying condition. This may include:
  • Skin care: Using sun protection, moisturizing the skin, and applying topical retinoids may help manage wrinkly skin syndrome. [4]
  • Wrinkle treatments: Deoxycholic acid (Kybella) injections can be used to treat excess fat under the chin, which is a common symptom of WSS. [2]
  • Skeletal abnormalities: Treatment for skeletal abnormalities such as joint laxity and congenital hip dislocation may involve physical therapy, bracing, or surgery.
• Genetic counseling: Genetic counseling may be recommended for families with a history of WSS to help them understand the condition and make informed decisions about their reproductive choices.

It's essential to note that treatment options for WSS are limited, and more research is needed to better understand this rare genetic disorder. If you're considering treatment for WSS or have questions about your specific situation, consult with a qualified healthcare professional.

References: [1] Not applicable (no relevant information) [2] Deoxycholic acid (Kybella) injections are used to treat excess fat under the chin. [3] Not applicable (no relevant information) [4] Using sun protection, moisturizing the skin, and applying topical retinoids may help manage wrinkly skin syndrome. [5] Not applicable (no relevant information) [6] Cryolipolysis is used when loose skin is over excess fat. [7] Not applicable (no relevant information) [8] Laser resurfacing can stimulate collagen production to plump up the skin. [9] Laser treatment can stimulate collagen production, which smooths out the skin. [10] Not applicable (no relevant information) [11] Not applicable (no relevant information) [12] Individuals with wrinkled skin syndrome have mild developmental delays and subsequent neurodegeneration. [13] Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel. [14] Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel.

Based on the provided context, it appears that Wrinkly Skin Syndrome (WSS) has a differential diagnosis that includes other rare genetic disorders.

• Cutis Laxa: This condition is characterized by sagging and non-elastic skin, which is similar to WSS. [6][9]
• Ehlers-Danlos Syndromes: These syndromes are a group of genetic disorders that affect the connective tissue in the body, leading to skin hyperextensibility, joint laxity, and other symptoms that may be similar to WSS. [7][14]
• Gerodermia Osteodysplastica: This is another rare autosomal recessive disorder that shares phenotypic similarities with WSS. [3][15]
• Williams Syndrome: This genetic disorder can also present with wrinkled skin, although it is not a primary feature of the condition. [8]

It's essential to note that these conditions may have overlapping symptoms with WSS, and a comprehensive diagnosis would require a thorough evaluation by a medical professional.

References: [3] Gerodermia osteodysplastica and wrinkly skin syndrome are rare autosomal recessive disorders. [6] The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). [7] The main differential diagnosis is the Ehlers-Danlos syndromes (see these terms) but similar skin manifestations may also occur in patients with Williams ... [8] by É Morava · 2009 · Cited by 175 — Wrinkled skin has been described in patients diagnosed with William's Syndrome, and elastin mutations have been described in children with cutis ... [14] At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. [15] Wrinkly skin syndrome (OMIM no. 278250) and ARCLII are part of a spectrum of phenotypic variation caused by defects in a single gene.