restrictive dermopathy 1

Restrictive Dermopathy Description

Restrictive dermopathy is a rare and lethal congenital skin disorder [1]. It is characterized by very tight and thin skin with erosions and scaling [3]. The condition is often mistaken for other similar disorders due to its unique symptoms [2].

Some common features of restrictive dermopathy include:

• Taut, translucent, thin skin with erosions and fissures [4]
• Tight adherent skin with superficial vasculature [5]
• Distinctive facies (facial appearance) [6]
• Joint contractures [5]
• Sparse or absent eyelashes [6]

Restrictive dermopathy is a genetic disorder, inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to inherit it [7]. It is a rare condition with less than 60 reported cases to date [7].

References:

[1] Restrictive dermopathy is a rare, autosomal recessive, lethal congenital skin disorder. [2] This congenital genodermatosis could be mistaken for various other ... [3] Disease definition. A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, ... [4] Restrictive dermopathy is a rare, fatal, autosomal recessive disorder characterized by taut, translucent, thin skin with erosions and fissures.186,187 The ... [5] It is usually diagnosed postnatally by the presence of tight adherent skin with superficial vasculature, distinctive facies, joint contractures ... [6] Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes, and ... [7] by T Blackburn · 2022 — Restrictive dermopathy (RD) is a rare, lethal laminopathy

Early Manifestations

The earliest signs of restrictive dermopathy are typically apparent in the late second trimester or early third trimester of pregnancy. These initial manifestations include:

• Intrauterine growth retardation
• Decreased fetal movements
• Joint contractures
• Mouth fixed in an 'O' position

However, these early signs are often too nonspecific to suggest a diagnosis of restrictive dermopathy (1).

Characteristics at Birth

Typically, the characteristic manifestations of restrictive dermopathy are easily recognizable at birth. These include:

• Thin, tightly adherent translucent skin with erosions at flexure sites
• Superficial vessels
• Fixed, open mouth
• Generalized joint ankylosis

These symptoms are often present from birth and can be a key indicator of the condition (4, 5).

Other Symptoms

In addition to these characteristic manifestations, restrictive dermopathy is also associated with other symptoms, including:

• Prematurity
• Fixed facial expression
• Micrognathia
• Sparse or absent eyelashes

These symptoms can vary in severity and may be present at birth or develop later in life (6).

References

(1) Earliest manifestations are only apparent in the late second trimester/early third trimester and include intrauterine growth retardation, decreased fetal movements, eventual joint contractures, and mouth fixed in an 'O' position. However, these signs are too nonspecific to suggest the diagnosis ...

(4) Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis.

(5) Jan 18, 2022 — Typical clinical features at birth include tight, rigid, translucent skin; prominent superficial vessels; fixed, open mouth with ...

(6) by JHS Smitt · 1998 · Cited by 53 — Analyzing the symptoms, we concluded that virtually all the cases had certain features in common: prematurity, fixed facial expression, micrognathia, mouth ...

Diagnostic Tests for Restrictive Dermopathy

Restrictive dermopathy, a rare and lethal congenital skin disorder, can be challenging to diagnose. However, several diagnostic tests can help confirm the condition.

• Prenatal testing: Prenatal testing via chorionic villus sampling or amniocentesis is considered the most reliable method for antenatal diagnosis of at-risk pregnancies [6].
• Skin biopsy: Histopathologic examination of skin biopsy sections shows a thick epidermis, and a thin dermis with a paucity and hypoplasia of cutaneous appendages. Collagen bundles are abnormally arranged, and elastic fibers are almost absent [3].
• Genetic analysis: Genetic analysis can provide a molecular diagnosis of restrictive dermopathy. This is recommended for individuals with a personal and/or family history of the disorder to ensure accurate diagnosis and genetic counseling [8].

Important Considerations

It's essential to note that there is no reliable prenatal diagnostic test for restrictive dermopathy, despite intrauterine skin biopsy being performed in some cases [13]. Most infants diagnosed with restrictive dermopathy pass away from respiratory insufficiency due to thoracic stiffness.

References

[3] Context 3 [6] Context 6 [8] Context 8 [13] Context 13

Based on the provided context, it appears that there are limited treatment options available for Restrictive Dermopathy.

Supportive Treatment

According to search result [4], supportive treatment consists of emollients, nursing in a humidified incubator, strict hand hygiene, and eye lubricants. This approach is aimed at alleviating symptoms and improving the quality of life for affected individuals.

Farnesyl Transferase Inhibitor (FTI)

A study mentioned in search result [9] suggests that the farnesyl transferase inhibitor (FTI) lonafarnib may be beneficial in correcting aberrant nuclear morphology in cells associated with Restrictive Dermopathy. However, further research is needed to confirm its efficacy and safety.

Current Limitations

Unfortunately, there are no specific treatments or medications mentioned in the provided context that can directly address the underlying causes of Restrictive Dermopathy. The condition is often fatal, and supportive care is primarily focused on managing symptoms and improving quality of life.

It's essential to note that the information available may not be comprehensive, and further research is necessary to better understand the treatment options for Restrictive Dermopathy.

References: [4] - Supportive treatment consisted of emollients, nursing in a humidified incubator, strict hand hygiene, eye lubricants ... [9] - The farnesyl transferase inhibitor (FTI) lonafarnib is known to correct the aberrant nuclear morphology of HGPS patient cells and improves ...

Differential Diagnosis of Restrictive Dermopathy

Restrictive dermopathy (RD) is a rare and lethal congenital disorder characterized by tight adherent skin, joint contractures, and pulmonary hypoplasia. When diagnosing RD, it's essential to consider other conditions that may present with similar symptoms. The differential diagnosis for restrictive dermopathy includes:

• Rubinstein-Taybi syndrome: A genetic disorder characterized by distinctive facial features, intellectual disability, and skeletal abnormalities.
• Epidermolysis bullosa: A group of genetic disorders that cause skin blistering and fragility.
• Aplasia cutis congenita: A rare condition where there is a lack of development of the skin at birth.
• Lethal ichthyosis variant of arthrogryposis: A severe form of ichthyosis (dry, scaly skin) associated with joint contractures and other skeletal abnormalities.
• Other severe congenital skin defects: Such as Paraná hard-skin syndrome, cerebrooculofacioskeletal syndrome, and Neu-laxova syndrome.

These conditions can be mistaken for restrictive dermopathy due to their similar clinical presentations. Therefore, a comprehensive diagnostic evaluation is necessary to accurately diagnose RD and rule out other potential causes of the symptoms.

References:

• [4] Restrictive dermopathy was the final diagnosis. The differential diagnosis of restrictive dermopathy includes Rubinstein–Taybi syndrome and congenital skin disorders such as epidermolysis bullosa, aplasia cutis congenita, the lethal ichthyosis variant of arthrogryposis, and other severe congenital skin defects.
• [9] Restrictive dermopathy is a rare lethal laminopathy inherited in an autosomal recessive fashion. A mutation in the zinc metalloproteinase (ZMPSTE24) gene or lamin A is responsible for the condition. ... Differential Diagnosis & Pitfalls Copy. To perform a comparison, consider other conditions that may present with similar symptoms.
• [14] Restrictive dermopathy is a rare autosomal recessive disorder characterized by extreme tautness of the skin causing restricted intrauterine movement and a fetal akinesia deformation sequence. ... We report on a case of restrictive dermopathy and discuss the differential diagnoses.