Acro Dermato Ungual Lacrimal Tooth Syndrome

Synonyms

2

Overview

Acro–dermato–ungual–lacrimal–tooth syndrome is a rare genetic disease and it is an autosomal dominant form ofectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities. The syndrome arises from a mutation in the TP63 gene. This disease was previously thought to be a form of ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), but was classified as a different disease in 1993 by Propping and Zerres.

Symptoms

  • Excessive freckling
  • Ectrodactyly
  • Onychodysplasia
  • Tear duct obstruction/ lacrimal duct anomalies
  • Hypodontia
  • Early loss of permanent teeth
  • Chronic skin infection
  • Dry skin
  • Dysplastic toenails
  • Thick toenails
  • Grooved toenails
  • Fine hair
  • Lentigines
  • Oligodontia
  • Absent nipples
  • Lack of breast tissue
  • Absent scalp hair
  • Sparse scalp hair
  • Webbed fingers
  • Syndactyly,
  • Dysplastic nails,
  • Hypoplastic breasts and nipples,
  • Hypotrichosis, hypohidrosis,
  • Broad nasal bridge,
  • Midfacial hypoplasia,
  • Exfoliative dermatitis and xerosis
  • Abnormality of the eye
  • Finger syndactyly
  • Melanocytic nevus
  • Skin ulcer
  • Split foot

The lack of facial clefting and ankyloblepharon are important because they exist in ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) but not in ADULT syndrome

Sometimes there are no warning signs, but in other cases people can experience dizziness or fainting spells. Sudden loss of consciousness or death often occurs during physical exercise or emotional upset. The frequency of the condition isn't fully known as many sudden deaths are put down to accidents. But research has indicated that about 500 deaths a year in the UK are because of sudden arrhythmic death syndrome.

Causes

ADULT syndrome is due to autosomal dominant mutations of the TP63 gene, which encodes the p63 protein. TP63 mutations cause deformities because the p63 protein is critical in embryonic development of limbs and other ectodermal tissues. 7 mutations have been found, the commonest forms being R298Q and R243W, in which encoding for arginine is changed to glutamine at position 298 and tryptophan at position 243 respectively. Other p63 genes mutation syndromes include ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) and Hay-Wells syndromes.

Many conditions have been found to precipitate ARDS. In some cases a predisposing condition cannot be identified. The following is a partial list of the most common predisposing conditions:

  • Infection - Pneumonia of any etiology (especially viral) and systemic sepsis (especially gram negative)
  • Shock - Any type, particularly septic and traumatic shock o Aspiration - Gastric contents, near drowning, and toxic inhalation
  • Trauma - Pulmonary contusion, fat embolization, and multiple trauma
  • Other - Systemic inflammatory response syndrome, pancreatitis, postcardiopulmonary bypass, massive blood transfusion, drug ingestion (eg, heroin, methadone, barbiturates, salicylates)

Diagnosis

Inheritance is dependent on the syndrome, but some conditions are autosomal dominant, others are autosomal recessive and some are acquired, due to medication. As more people become aware of the syndromes, more families and individuals are being diagnosed as being at risk. In some situations, the use of beta blocker medications are effective in 90 per cent of cases. In other cases, surgery might be appropriate.

Resources

  • NIH