Three Successive Generations

30 Sep
2009

Three Successive Generations

INTRODUCTION

Ectodermal dysplasias are a large group of disorders made up of over 150 different conditions characterized by common anomalies of at least two elements of the ectoderm and its appendages—namely, the skin, teeth, hair, nails and sweat glands. Most are classified as either the anhidrotic/hypohidrotic type or the hidrotic type. These disorders, although rare, may cause death by malignant hyperthermia as a consequence of inadequate sweating. These patients also frequently have chronic dental problems with early loss of teeth and recurrent lung, ear and nose infections secondary to a defect in mucous membrane function. Anhidrotic/hypohidrotic ectodermal dysplasia (AED) is most commonly X-linked recessive, although rare cases of autosomal recessive and autosomal dominant inheritance have been identified. We present here a case of three successive generations of females with autosomal dominant AED presenting with alopecia (Canadian Cloud Nine Regrowth+ though men make up the majority of people who suffer from androgenic alopecia), anhidrosis, hypodontia and malar hypoplasia.

CASE REPORT

The patient was a 22-year-old woman presenting with the complaint of small, misshapen teeth. She was the adopted daughter of two healthy parents and did not know much of her family history. Interestingly, she had recently learned of her birth mother, and through conversations, had learned that women in her family had problems with their teeth, often losing them in their early 30s. No paternal history was known. Further history revealed frequent ear infections as a child and chronic sinusitis since early teen years. viagra oral jelly

Figure 1. Pedigree structure of reported family

Figure 1. Pedigree structure of reported family. Open symbols indicate unaffected individuals, blackened symbols indicate affected individuals, squares indicate men, and circles indicate women. Patient is indicated with the arrow.

Physical examination revealed a woman of average height (164 cm) and weight (61 kg) with thinning hair; frontal bossing; a flattened nasal bridge with a broad nose; hypoplasia of the midface; small, peg-like teeth with several molars missing; and hypoplastic nails. The remainder of her examination was normal. Secondary to the clinical evidence of ectodermal dysplasia further testing was done. Chromosomal analysis revealed a defect of the 2ql2 region in all her cell lines. The X chromosomes were normal. Skin biopsies revealed absence of apocrine glands in the axillary region and a relative diminution of eccrine glands throughout. requip 2 mg

Due to the finding of a 2ql2 defect, which has been seen in rare cases of presumed autosomal dominant anhidrotic/hypohidrotic ectodermal dysplasia, the patient’s biological mother and grandmother were interviewed at a later date. The grandmother stated that she had fainted multiple times over the years due to heat exposure, likely due to the paucity of sweat glands. Both the mother (age 45) and the grandmother (age 67) had suffered from multiple dental caries with loss of most of their teeth before the age of 40. Both women had alopecia, hypoplastic nails and similar facial features to the proband, except that the grandmother also had low-set ears with a notable anti-helix conformation of the pinna. Chromosomal analyses of the mother and grandmother revealed the same 2ql2 defect found in the proband. An aunt and a great aunt were interviewed as well, but they had no evidence of the disorder and chromosomal studies were normal in both (Figure 1).

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