Beare–Stevenson cutis gyrata syndrome
Beare–Stevenson cutis gyrata syndrome | |
---|---|
Synonyms | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Craniosynostosis, cutis gyrata, acanthosis nigricans, choanal atresia, genital and anal abnormalities, umbilical stump overgrowth |
Complications | Life-threatening complications, respiratory distress, feeding difficulties |
Onset | Present at birth or in early infancy |
Duration | Lifelong |
Types | |
Causes | Mutations in the FGFR2 gene |
Risks | Autosomal dominant inheritance |
Diagnosis | Identification of the p.Pro250Arg pathogenic variant in FGFR2; molecular genetic testing for FGFR1, FGFR2, and FGFR3 genes |
Differential diagnosis | Craniosynostosis syndromes, Apert syndrome, Crouzon syndrome |
Prevention | |
Treatment | Symptomatic and supportive; may include surgery for craniosynostosis and other abnormalities |
Medication | |
Prognosis | Poor prognosis in severe cases, variable outcome depending on the severity of symptoms |
Frequency | Fewer than 25 reported cases |
Deaths | High mortality in infancy or early childhood in severe cases |
Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder that involves a combination of severe craniofacial malformations, including craniosynostosis and a characteristic skin condition called cutis gyrata. This syndrome is often associated with other abnormalities such as acanthosis nigricans, choanal atresia, and malformations of the genitalia and anus. It is a condition that typically manifests in infancy or early childhood and can lead to life-threatening complications.
Symptoms and Characteristics[edit | edit source]
Individuals with Beare–Stevenson cutis gyrata syndrome may present with a variety of physical signs, including:
- Craniosynostosis – Premature fusion of skull bones, often leading to a characteristic "cloverleaf skull" shape. This fusion restricts skull growth, resulting in abnormal head and facial shape.
- Cutis gyrata – Wrinkled, furrowed skin on the scalp, face, palms, and soles of the feet, resembling a gyrate pattern.
- Acanthosis nigricans – Dark, thickened, velvety patches of skin, often found on the hands, feet, and in the groin.
- Choanal atresia – Blockage or narrowing of the back of the nasal passage, causing respiratory difficulties.
- Genital and anal abnormalities – Structural malformations affecting the genitalia and anus, which may contribute to developmental challenges.
- Overgrowth of the umbilical stump – Abnormal growth of the umbilical cord remnant post-birth.
The clinical severity varies widely among individuals, with some experiencing more severe symptoms that may result in life-threatening complications in infancy.
Genetics and Cause[edit | edit source]
The underlying cause of Beare–Stevenson cutis gyrata syndrome is mutations in the FGFR2 gene, which encodes the fibroblast growth factor receptor 2 protein involved in critical signaling pathways that regulate cell growth and differentiation. However, not all cases of Beare–Stevenson syndrome are associated with mutations in this gene, and alternative causes remain unidentified.
The syndrome follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene from either parent can result in the condition. Most cases are de novo, meaning the mutation occurs spontaneously and is not inherited from the parents.
Diagnosis[edit | edit source]
Diagnosis of Beare–Stevenson cutis gyrata syndrome is made through clinical evaluation, including the identification of characteristic physical features and confirmation through molecular genetic testing. The p.Pro250Arg pathogenic variant in the FGFR2 gene is the most common mutation associated with the syndrome.
Genetic testing may also involve analysis of the FGFR1, FGFR2, and FGFR3 genes, as mutations in these genes can cause similar syndromes, such as Apert syndrome and Crouzon syndrome. A clinical diagnosis may be supplemented with imaging, including cranial CT scans or MRIs, to evaluate craniosynostosis and other associated anomalies.
Treatment[edit | edit source]
Currently, there is no cure for Beare–Stevenson cutis gyrata syndrome, and treatment is symptomatic and supportive. Management often includes:
- Surgical intervention – To correct craniosynostosis and prevent neurological impairment from skull deformities.
- Surgical treatment for choanal atresia – To address nasal passage blockages and improve breathing.
- Monitoring and management of acanthosis nigricans – Topical treatments may help with the skin abnormalities.
- Supportive therapies – This includes feeding support, respiratory care, and developmental support as needed.
Given the complex and life-threatening nature of the syndrome, individuals are typically managed by a multidisciplinary team, including pediatricians, geneticists, surgeons, and other specialists.
Prognosis[edit | edit source]
The prognosis of Beare–Stevenson cutis gyrata syndrome varies depending on the severity of the symptoms. Some individuals may experience significant developmental and neurological delays, while others may have more moderate symptoms and better outcomes with early intervention and supportive care. In severe cases, particularly those with life-threatening respiratory or cardiovascular complications, the prognosis can be poor, and affected individuals may not survive beyond infancy or early childhood.
Epidemiology[edit | edit source]
Beare–Stevenson cutis gyrata syndrome is extremely rare, with fewer than 25 reported cases in the medical literature. The condition occurs worldwide, though due to its rarity and variable clinical presentation, it is likely underdiagnosed.
See Also[edit | edit source]
- Craniosynostosis
- Acanthosis nigricans
- Cutis verticis gyrata
- Autosomal dominant disorders
- Apert syndrome
- Crouzon syndrome
External links[edit | edit source]
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