Diagnosis in Dysmorphology: Clues From the Skin

S.F. Smithson; R.M. Winter


The British Journal of Dermatology. 2004;151(5) 

In This Article

Process of Syndrome Diagnosis

There is no universally agreed methodology for accurate diagnosis in dysmorphology. Sometimes the diagnosis can be made instantaneously by 'Gestalt', or instinctive recognition of features based on past experience.[11] A more objective stepwise approach identifies 'handles' (which may be clinical features or malformations), identifying links between them and then recognizing whether they conform to a known pattern/syndrome. Clinical experience is vital to this process but the dysmorphologist can use specific tools, clinical photographs, specialized centile charts,[12] laboratory investigations and electronic databases. Two commonly used examples of the latter are the London Dysmorphology Database[1] and On Line Mendelian Inheritance in Man,[13] which can be used to search vast quantities of stored information using combinations of handles/key features. For each anatomical structure attention must be given to size, relative proportion, growth, symmetry and extra or missing components. Abnormalities in these parameters with specific combinations of different features may focus attention on one particular diagnosis, excluding others. For example, macrocephaly is a feature seen in over 250 syndromes,[1] but when observed together with aplasia cutis of the scalp, corneal epibulbar dermoid cysts and areas of increased skin pigmentation, points to a diagnosis of oculoectodermal syndrome,[14] illustrated in Figure 1.

Figure 1.

The combination of (a) macrocephaly, (b) cutis aplasia and (c) abnormal skin pigmentation together make the diagnosis of oculoectodermal syndrome.

In assessing a child with dysmorphic features, the family must be considered as a whole. Gorlin basal cell naevus syndrome is a condition which can present in childhood with macrocephaly alone but one parent may show subtle features of the condition if carefully examined.[15] Time is often an important dimension as dermatological and other features can evolve over months or years.


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