Table 3.

Ectodermal Dysplasias in the Differential Diagnosis of Hypohidrotic Ectodermal Dysplasia

Gene(s)DisorderMOIClinical Characteristics
HairSkinDentalNailsOther
DLX3 Trichodentoosseous syndrome (OMIM 190320)ADKinky or curly hairNormal sweating abilityThin enamel, small, widely spaced teeth, teeth pits, & taurodontismBrittle nails↑ bone density
GJB2 Keratitis-ichthyosis-deafness syndrome (OMIM 148210)ADSparse hairProgressive palmoplantar hyperkeratosisNRNail dystrophySensorineural deafness, photophobia, & corneal ulceration
GJB6 Hidrotic ectodermal dysplasia 2 ADSparse hair or alopeciaNormal sweating ability, palmoplantar hyperkeratosisNormal teethNail dystrophyPhotophobia
HOXC13 Ectodermal dysplasia 9, hair/nail type (OMIM 614931)ARHypotrichosisNRNormal teethNail dystrophy
IKBKG Hypohidrotic ectodermal dysplasia w/immunodeficiency (OMIM 300291)XLSparse hairHypohidrosisHypodontiaNRImpaired immune function w/risk for recurrent infections, hypogammaglobulinemia, T cell dysfunction
Incontinentia pigmenti XLAtrophic hairNormal sweating ability, 4-stage skin rash, 1 pigmentary involvementHypodontiaNail dystrophyCataract, microphthalmia, retinal vascular proliferation, & other ocular abnormalities, breast hypoplasia or aplasia, short stature
KRT74 Ectodermal dysplasia 7, hair/nail type (OMIM 614929)ARHypotrichosisNRNormal teethNail dystrophy
KRT85 Ectodermal dysplasia 4, hair/nail type (OMIM 602032)ARHypotrichosisNRNormal teethNail dystrophy
MSX1 Witkop tooth & nail syndrome (OMIM 189500)ADNormal hairNormal sweating abilityPartial to total absence of permanent teethThin, small, & friable nails, nail pits & ridging
NFKBIA Anhidrotic ectodermal dysplasia w/T cell immunodeficiency (OMIM 612132)ADSparse hairHypohidrosis, cutaneous candidiasisHypodontiaNRImpaired immune function w/risk for recurrent infections, hypogammaglobulinemia
TSPEAR Ectodermal dysplasia 14 (OMIM 618180)ARHypotrichosis of scalp, esp anteriorVariable hypohidrosisHypodontiaNR

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; NR = not reported; XL = X-linked

1.

Incontinentia pigmenti manifests in stages that evolve sequentially: stage I (bullous), stage II (verrucous), stage III (hyperpigmentation), and stage IV (atretic). The onset and duration of each stage vary among individuals, and not all individuals experience all four stages.

From: Hypohidrotic Ectodermal Dysplasia

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