Table 2.

Disorders to Consider in the Differential Diagnosis of CHILD Syndrome

DiffDx DisorderGene(s)MOIClinical Features of the DiffDx Disorder
OverlappingDistinguishing
Chondrodysplasia punctata 2 EBP XL
  • Affects males
  • Skin manifestations: congenital generalized ichthyosiform nevus consisting of bilateral linear or patchy whorls of follicular hyperkeratosis
  • Asymmetric shortening of limbs
  • Skeletal abnormalities:
    • Short stature
    • Epiphyseal stippling
  • Ocular anomalies
Schimmelpenning-Feuerstein-Mims syndrome (SFMS) (OMIM 163200) HRAS
KRAS
NRAS 		See footnote 1.Skin lesions, which are w/o erythema or scaling, typically follow the lines of Blaschko & involve the face.
  • Systematized sebaceous nevus syndrome
  • Cerebral anomalies
  • Coloboma of the iris, choroid, or eyelids
  • Conjunctival lipodermoid
Incontinentia pigmenti IKBKG XL
  • Embryonic lethal in many males
  • Skin lesions present as erythema & then blisters at birth, progress to a wart-like rash (Stage II), swirling macular hyperpigmentation following lines of Blaschko (Stage III), & finally linear hypopigmentation by adulthood (Stage IV)
  • Alopecia
  • Hypodontia
  • Onychogryposis
  • Peripheral neovascularization in eyes
  • Seizures
  • ID

DiffDx = differential diagnosis; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked

1.

SFMS is sporadic and variable in severity [Wiedemeyer & Hartschuh 2009]. Somatic mosaic pathogenic variants in HRAS, KRAS, or NRAS have been reported in lesional tissue of some individuals.

From: NSDHL-Related Disorders

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