How is Revesz syndrome inherited?

Revesz syndrome follows an sporadic (occurs randomly) and autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Revesz syndrome?

Revesz syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Revesz syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Revesz syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Revesz syndrome?

Revesz syndrome can lead to serious complications, including a high risk of bone marrow failure. This means that the body may not produce enough blood cells, which can cause fatigue and increase the risk of infections. Additionally, there is a predisposition to developing cancer, making regular check-ups very important.

How does Revesz syndrome affect daily life?

Living with Revesz syndrome can be challenging due to its symptoms, such as skin changes, nail problems, and potential vision issues from bilateral exudative retinopathy. These symptoms may require special care and management, including regular visits to healthcare providers. Families may need to adjust daily routines to accommodate the needs of someone with this condition.

What is the prognosis for someone with Revesz syndrome?

Currently, information about the long-term prognosis for individuals with Revesz syndrome is limited. However, the presence of serious complications, like bone marrow failure and cancer risk, suggests that ongoing medical care and monitoring are essential. Each person's experience may vary, so it's important to discuss individual health with a healthcare provider.

Are there any specialists recommended for managing Revesz syndrome?

While specific recommendations for specialists are not detailed, individuals with Revesz syndrome may benefit from seeing healthcare providers who specialize in genetic disorders, dermatology, and ophthalmology. These specialists can help manage the various symptoms and complications associated with the condition, ensuring comprehensive care.

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Revesz syndrome (DKCA5) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Fine, reticulate skin pigmentation, Bone marrow hypocellularity, Incoordination, and Visual loss and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Ataxia, Cerebral calcification, Broad-based gait
Blood and immune system	4	Aplastic anemia, Macrocytic anemia, Oral leukoplakia
Skin	3	Fine, reticulate skin pigmentation, Nail pits, Nail dystrophy
Eyes	2	Nystagmus, Exudative retinopathy
Bones and joints	1	Bone marrow hypocellularity
Head and neck	1	Microcephaly
Arms and legs	1	Ridged fingernail
Growth and development	1	Intrauterine growth retardation

GeneReviews

Clinical Guidance

The classic dyskeratosis congenita (DC) triad of abnormal fingernails and toenails, lacy, reticular pigmentation of the neck and upper chest, and oral leukoplakia is diagnostic; however, these features are not present in all individuals with DC and related telomere biology disorders (DC/TBD) and may or may not develop over time after the appearance of other complications listed here [, , , ]. The time of onset for these medical complications varies considerably among individuals even within the same family and thus the manifestations of DC/TBD do not progress in a predictable pattern.

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding [, , , , , ]. The criteria for classic DC were described by ; see . Note, however, that individuals may develop features of a DC/TBD at variable rates and ages, which can make proper diagnosis challenging.

Suggestive Findings

A telomere biology disorder (TBD), including dyskeratosis congenita (DC), should be suspected in individuals with the following clinical findings. Physical characteristics. One of the following:

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

GeneReviews

Differential Diagnosis

Disorders with clinical features that overlap those of dyskeratosis congenita and related telomere biology disorders (DC/TBD) are described below. Disorders with Nail Dysplasia Table 3. Disorders with Nail Dysplasia in the Differential Diagnosis of Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

Gene	Disorder	MOI	Clinical Characteristics	Comment
FZD6	Twenty-nail dystrophy (OMIM 161050)	AR	Onychauxis, hyponychia, onycholysis

Genetic testing for TINF2 is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Revesz syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with dyskeratosis congenita (DC) or a related telomere biology disorder (TBD), it is important to note that the clinical spectrum of DC/TCB is broad and signs and symptoms develop at various ages and rates. The evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

System/Concern	Evaluation	Comment
Dermatologic	Thorough skin nail exam	—
Dental	Baseline eval for oral hygiene, leukoplakia, oral squamous cell cancer	—
Otolaryngologic	Baseline eval for leukoplakia squamous cell head/neck cancer	Growth
development	Clinical assessment	—
Ophthalmic	Thorough exam for complications related to lacrimal duct stenosis, abnormal eyelash growth, retinal disorders incl exudative retinopathy	Gastrointestinal

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

GeneReviews

Clinical Guidance

Blood transfusions

Transfusions of red cells or platelets should be avoided or minimized for those who are candidates for hematopoietic cell transplantation (HCT).
To minimize the chances of sensitization, family members must not act as blood donors if HCT is being considered.
All blood products should be leukodepleted and irradiated.

Radiation. It is prudent to minimize exposure to therapeutic radiation as data on radiation side effects are limited. Androgens and growth factors. The combination of androgens and granulocyte colony-stimulating factor was associated with splenic peliosis ("blood lakes") and rupture in two individuals; thus, the combination should be avoided . Cancer prevention. Given the increased susceptibility of individuals with DC/TBD to developing leukemias and other malignancies, individuals with DC/TBD are advised to avoid toxic agents that have been implicated in tumorigenesis (including smoking cigarettes or drinking alcohol), to use sunscreen regularly, and to avoid excessive sun exposure.

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

Clinical Trials

2 trials found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The recommendations in this section were discussed at the first DC clinical research workshop in 2008 and updated in 2014 at a consensus conference that led to publication of the first edition of the Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines . Because of the rarity of DC/TBD, the recommendations are not based on large-scale clinical trials. Table 7. Recommended Surveillance for Individuals with Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

System/Concern	Evaluation	Frequency
for BMF	CBC	Prior to start; Rpt every 4-6 wks; When counts are stable, rpt every 2-3 mos Liver function tests
Cancer	Self-exam for oral, head, neck cancers	Monthly; Cancer screening by otolaryngologist; Gynecologic exam; Skin cancer screening by dermatologist
Pulmonary fibrosis	PFTs	Annually starting at age 8 yrs (or at diagnosis) Pulmonary arteriovenous
malformations	Bubble echocardiogram	In case of pulmonary symptoms in absence of pulmonary fibrosis Oral dental issues
Immunologic issues	Follow up based on findings at initial eval	At immunologist's discretion Cutaneous

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

Phenotype severity distribution: 15 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:268130

Orphanet

European rare disease database

Orphanet:3088

GARD

Genetic and Rare Diseases Info Center

GARD:4695

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for TINF2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Revesz syndrome

Revesz syndrome is a rare and severe variant of dyskeratosis congenita that typically starts in early childhood. People with this condition show changes in skin color (both hyperpigmentation and hypopigmentation), nail problems, and oral lesions, along with sparse and fine hair. In addition to these features, Revesz syndrome is marked by bilateral exudative retinopathy, which affects the eyes, and intracranial calcifications. There is also a high risk for bone marrow failure and a predisposition to developing cancer. These features together make the condition complex and serious.

Common signs in people with Revesz syndrome include skin changes such as areas of darker or lighter pigmentation, nail dystrophy, and oral white patches (leukoplakia). Other noticeable features are sparse and fine hair, bilateral exudative retinopathy which may impact vision, and intracranial calcifications. There is also a significant risk of bone marrow failure, which can affect blood cell production.

Revesz syndrome is linked to genetic changes, specifically involving the TINF2 gene. This gene is important for maintaining telomeres, the protective ends of chromosomes. Changes in this gene can lead to the development of the features seen in dyskeratosis congenita and its variants, including Revesz syndrome. Associated genes include TINF2.

Kisho

Revesz syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Revesz syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Revesz syndrome?

What are the symptoms of Revesz syndrome?

What causes Revesz syndrome?

How is Revesz syndrome inherited?

How rare is Revesz syndrome?

How is Revesz syndrome diagnosed?

Are there treatments for Revesz syndrome?

What complications can arise from Revesz syndrome?

How does Revesz syndrome affect daily life?

What is the prognosis for someone with Revesz syndrome?

Are there any specialists recommended for managing Revesz syndrome?