Gene

Clinodactyly

Ectodermal dysplasia

Biology

Dens invaginatus

Hypoplasia

Syndactyly

Poikiloderma

Scalp

Aplasia cutis congenita

Dermatology

Biochemistry

Dentistry

FLNA

Genetics

Skull

Anatomy

Hypodontia

Cytoskeleton

Medicine

Hypotrichosis

Cell

Aplasia

Filamin

Invagination

British Journal of Dermatology

SUMMARY An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodysplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for differential diagnosis.

A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias