Congenital abnormalities in infancy / edited by A.P. Norman.

Date:
1963
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Congenital abnormalities in infancy / edited by A.P. Norman. Source: Wellcome Collection.

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    360 CONGENITAL ABNORMALITIES in the remaining 130 males was uncertain. These studies have great importance in genetic counselling. Von Recklinghausen's Syndrome Multiple Neurofibromatosis The classic lesion of Von Recklinghausen's syndrome is the connective tissue tumour of the nerve fibre, occurring in any part of the central nervous system. In clinical medicine subcutaneous lumps which feel firm and fibrous lead to a search for the tell-tale café au lait pigmented areas on the skin and a study of the family history for recognized cases. The full syndrome includes an unsightly multiplicity of cutaneous fibromata, endocrine dyscrasias, mental changes, skeletal abnormalities and finally malignant transformation of the neurofibroma. These features are expected to develop in some cases with an accelera¬ tion at or just before puberty. Certain phenomena of Von Reckling¬ hausen's syndrome, however, are present at birth. Café au ìait patches, freckles and rarely cutaneous fibromata may be obvious. Other mani¬ festations include local hypertrophy, for example of one finger or toe or of a limb, and congenital bowing of the tibia and pseudarthrosis. A positive family history would add significance to the presence early in life of any of these signs; without it a careful survey of the family would be advisable. The literature does not reveal how early in life the clinical picture can be recognized, and local hypertrophy, congenital bowing and pseudarthrosis at birth have not in the past been regarded by paediatricians as anything other than isolated findings. Crowe, Schull and Neel have studied 203 affected individuals in 107 families containing one or more cases and have reached a number of helpful conclusions. They confirm inheritance as an autosomal domi¬ nant, arising by mutation, 50 per cent having an affected relative, fertility being reduced and one case appearing among 2500 to 3300 births. The macular skin lesion should exceed 1-5 cm in its broadest diameter and is identical with the isolated café au lait patch in a member of a normal population. The presence of six or more patches seems to be diagnostic, but some affected individuals who have fewer are more liable to the later development of tumours and to a greater central involvement in the nervous system and the chest. The cutaneous fibro¬ mata are violaceous at first, occur in any place and are of any size, A number of patients were sexually underdeveloped or maturation was retarded, although no reason for this is given; café au lait patches have been described in Turner's syndrome, and further study would seem to be needed. There is a significant association with chromaffin tumours