Abnormalities of the hallux skin and nail in the course of very rare arteriovenous malformation / Anormalidades de unha e pele do hálux no decorrer de malformação arteriovenosa muito rara

Abstract Arteriovenous malformations (AVMs) are usually found in the pelvic area and the brain. These vascular anomalies are rarely reported in the toes. AVMs in the toes may be asymptomatic, but can also cause atypical symptoms. Congenital AVMs can expand as patients age and manifest in adulthood. They may be provoked by injury. Acquired AVM might be caused by iatrogenic factors, venous or arterial catheterization, percutaneous invasive vascular procedures, surgery, or degenerative vascular disorders. An AVM can damage surrounding tissues and can cause destruction of skin, nails and bones. The course of the disease is often unpredictable and diagnosis is usually delayed as a result.

Resumo As malformações arteriovenosas (MAVs) são geralmente encontradas na região pélvica e no cérebro.. Essas anomalias vasculares raramente são relatadas nos dedos dos pés. A MAV nesse local pode ser assintomática ou apresentar sintomas atípicos. MAVs congênitas podem evoluir com a idade e se manifestar na idade adulta. O fator provocante pode ser uma lesão traumática. Uma MAV adquirida pode ser causada por fatores iatrogênicos, cateterismo venoso e arterial, procedimentos percutâneos vasculares invasivos, cirurgias e alterações degenerativas vasculares. A MAV pode danificar tecidos adjacentes e pode causar destruição de pele, unhas e ossos. O curso da doença é muitas vezes imprevisível, e como resultado, atrasar o diagnóstico.

Yunis-varon syndrome: the first report of two Iranian cases

The Yunis-Varon syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles [cleidocranial dysplasia], absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varon syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypo plastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varon syndrome

Fibrodysplasia ossificans progressiva.

A 2-year-old boy presented with low-grade fever and multiple progressive painful swellings over upper dorsal trunk and supraclavicular region with progressive stiffening of skin for the last 2 months. Examination revealed dysmorphic face, proximally placed thumb and bilateral hallux valgus. Hence, a diagnosis of Fibrodysplasia Ossificans Progressiva was entertained.

Diagnosing acrocallosal syndrome.

A 3-month-old male child presented with typical features of acrocallosal syndrome. He satisfies Courten's diagnostic criteria for acrocallosal syndrome.