Disease

OMIM

Inheritance

Characteristic features

Differentiating features in our case

Naegeli-Franceschetti-Jadassohn

161000

AD

Complete absence of dermatoglyphics, reticulate hyperpigmentation, palmoplantar keratoderma, abnormal sweating, subtle developmental anomalies of the teeth and hair.

· Hypopigmented spots within the hyperpigmentation

· Normal dermatoglyphics sweating and teeth.

· Absence of palmoplantar keratoderma.

Dermatopathia pigmentosa reticularis (DPR)

125595

AD

Triad of reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features are adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis.

· Hypopigmented spots within the hyperpigmentation

· Involvement of the oral mucosa

· Normal dermatoglyphics

Dyskeratosis congenita [1]

305005

127550

224230

XLR

AD

AR

Reticulate pigmentation of poikiloderma, nail dystrophy with failure of the nails to form a nail plate and leucokeratosis of the oral mucosa.

· Absence of poikiloderma

· Absence of oral leukokeratosis