Academic journal article International Journal of Child Health and Human Development

Dermatology: Intellectual and Developmental Disabilities

Academic journal article International Journal of Child Health and Human Development

Dermatology: Intellectual and Developmental Disabilities

Article excerpt


First, it is important to appreciate the association between intellectual and developmental disability (IDD) and dermatologic manifestations based on embryology. Melanocytes, the pigment producing cells of the body have their origin in the ectodermal neural crest cells. Thus, many disorders of ectodermal development may have associated neurologic findings. The table below outlines dermatologic findings and the neurodevelopmental conditions with which they are associated (1).

The classical description of dermatologic conditions is based on configuration, color, pattern and distribution (2). We limit the list of descriptors to those that are inherent in conditions associated with IDD.


* Macules Flat, circumscribed, non-palpable

* Papules, plaques and lichenifications Papules are raised lesions ≤ 1cm in diameter. Plaques are raised papules > 1 cm in diameter.

Lichenifications are extensive areas of dried plaques

* Nodules

Nodules are elevated lesions located deeper than papules and do not attach to the overlying dermis or epidermis.

* Vesicles and bullae

Vesicles are sharply marginated collections of fluid in the epidermis and are ≤ 1 cm in diameter

Bullae are large vesicles > 1 mm in diameter

* Scales

Dried fragmentations of dead skin

* Erosions

Well-demarcated losses of superficial epidermis usually due to rupture of a vesicle

* Crusts

Dried exudates that consist of serum, pus, dried blood or scales

* Ulcers

Depressed lesions with loss of both epidermis and dermis

* Scars and indurations

These are both hardening of the skin. Scars involve formation of new connective tissue whereas indurations and sclerosis are thickening of skin.

* Excoriations

Areas of irritation secondary to scratching


* Red

Indicates blood flow

* Purple

Indicates blood flow with more venous stasis or extravasation

* Brown or black

Pigment deposit

* Blue

Pigment deposit or vascular collection

* Yellow

Fat or sebum deposit

* White

Depigmentation or keratin deposits

* Flesh-colored

Lesion with normal overlying skin


* Linear

* Annular

* Round, oval or irregularly shaped

* Reticular

* Variable


* Dermatomal

* Lines of Blashko

* Sun-exposed areas

* Extremities

* Facial

Dermatologic descriptors associated in persons with intellectual disability

Table 1 correlates dermatologic descriptors with diagnoses involving IDD (3). As hair and nails are also derived from ectoderm, table 2 correlates IDD with these descriptors.

Chromosomal abnormalities

Down syndrome

This is the most common trisomy with an incidence of 1 in 733 live births. Its main characteristics are hypotonia, intellectual disability (mild-moderate), flat facies, brachycephaly, upward-slanted palpebral fissurs, epicanthal folds, flat nasal bridge, protruding tongue, congenital cardiac lesions (endocardial cushion, septal defects, PDA), joint hyperextensibility, single palmar creases, widened gap between first and second toes, increased incidence of gastrointestinal anomalies (duodenal atresia, annular pancreas, T-E fistula Hirschprung disease and imperforate anus). Most common skin manifestations are hyperkeratosis, seborrhea, xerosis and folliculitis (4).

Trisomy 13

This trisomy occurs in 1 in 10,000 live births and it features cleftlip and palate, flexed fingers with postaxial polydactyly, ocular hypotelorism (as severe as Cyclops), microcephaly, holoprosencephaly, severe cardiac and gastrointestinal malformations. It carries 91% mortality by age one year. Developmental delay is severe. Skin manifestations are capillary hemangiomas and localized scalp defects (4).

Trisomy 18

This occurs in 1 in 6,000 live births and is characterized by low birthweight, a characteristic positioning of the hand (closed fist with overlapping 2nd and 3rd fingers and 4th and 5th fingers), short sternum, rocker-bottom feet, microcephaly, and prominent occiput, severe cardiac and renal malformations. …

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