Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis.

Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF). Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.

[Polydactyly of the hand and foot]. / Polidactilias de la mano y del pie.

OBJECTIVE: Our aim was to establish the differences between polydactyly of the hand, the foot and those affecting both the hands and feet. PATIENTS AND METHODS: One hundred twenty-five cases of hand polydactyly (HP), 105 of foot polydactyly (FP) and 25 cases of combined hand and foot polydactyly (HFP) were reviewed. We differentiated between preaxial, postaxial, axial and peculiar polydactyly and a group constituted by all other non-preaxial location (OTHERL) was also formed. In all patients the following parameters were analyzed: sex, laterality, antecedence of malformation in the family (FAANT) and the existence of other malformations (OTHERM). RESULTS: Polydactyly was commonly preaxial in the hand (72%), OTHERL in the foot (64.7%) and equally located in hands and feet in HFP, with the most frequent being postaxial/postaxial combination (36% of the cases). Bilaterality is rare in preaxial HP (3.3% versus 77.7% of right unilaterality) and remarkable in OTHERL (54.2%). Bilaterality is greater in preaxial FP (64.8%) and strongly marked in HFP, which accounts for 72% of hands and 80% of feet. There is a slight global dominance of males in all forms. The existence of FAANT is higher in OTHERL in the hand (45.7% versus 34.4% in preaxial) and in preaxial of the foot (45.9% versus 25% in OTHERL), being very high (48%) in HFP. The coexistence with other malformations, either in the hand or foot, is higher in OTHERL.

[Poland's syndrome. A report of 38 cases]. / Síndrome de Poland. Revisión de 38 casos.

OBJECTIVE: The purpose of this study was to analyze the different hand anomalies observed in Poland's syndrome. PATIENTS AND METHODS: Thirty-eight clinical histories were revised. There were 28 boys and 10 girls. In 18 cases the right side was affected and in 20 cases the left side. Special attention was placed on the analysis of the anatomical hand findings, in both the clinical and radiographic studies. The patients were classified into 5 types: Type 1, without syndactyly; type 2 syndactyly and hypoplastic or aplastic middle phalanx; type 3 or "shovel hand" with complete syndactyly also affecting the thumb; type 4 longitudinal deficiency of some digits or radius and type 5 transversal absence. RESULTS: Four cases presented associated chest wall anomalies. We have observed four cases of type 1, 25 cases of type 2 (65.7%), 5 cases of type 3, 3 cases of type 4 and one case of type 5. The middle phalanx was hypoplastic in 15 cases, aplastic in another 15 cases and combined hypo and aplastic in 4 cases. In 18 hands we observed two fissure plates in metacarpals. CONCLUSIONS: 1) We did not observe any side predominance.) Two fissure plates in the first metacarpus is frequently observed (78.2%). 3) We propose a classification according to the anatomical hand anomalies.