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Table 3 Phenotypic features

From: No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

Code Gestalt Score*
(0─1)
Skin Scalp hair Eyebrows Eyelashes Breast
F1_S1 0.1 Partially dry NAD Sparse (esp. laterally) NAD Size asymmetry
F1_S2 u.a NAD NAD NAD NAD NAD
F1_M 0.15 Dry Sparse, thin Very sparse Very sparse No mammary gland (left), no breastfeeding (voluntarily)
F2_S1 0.1 Neurodermatitis, dry scalp Partially sparse Sparse Sparse Soft mamillae
F2_S2 0.15 NAD Thin, strawy Sparse (esp. laterally) Sparse (esp. laterally) NAD
F2_M 0.12 Thin skin, partially dry Sparse, bald spots (occipital) Sparse Sparse Breastfeeding difficulties
F3_S1 0.16 Partially eczematous, dry Sparse, bald spots (hairline and lateral) Sparse (esp. laterally) Sparse Flat mamillae
F3_S2 0.13 Very dry NAD NAD Sparse Size asymmetry
F4_S1 0.16 NAD Rather sparse Sparse (esp. laterally) NAD NAD
F4_S2 0.37 Partially dry Rather sparse Sparse (esp. laterally) NAD NAD
F4_M 0.27 Dry Sparse, thin Rather sparse NAD Flat mamillae
F5_S1 0.06 Dry Rather sparse Rather sparse Rather sparse Breastfeeding difficulties
F5_S2 0.15 NAD Rather sparse, thin Sparse (esp. laterally) Rather sparse No breastfeeding, benign tumor
F6_S1 u.a NAD Partially sparse NAD NAD Breastfeeding difficulties due to small mamillae
F6_S2 0.38 Eczematous (permanent steroid treatment) Sparse Sparse (esp. laterally) Sparse Breastfeeding difficulties
F6_M 0.15 Psoriasis Partially sparse Sparse Sparse Breastfeeding difficulties
  1. Abbreviations: *, rounded; F, family; S, sister; M, mother; u.a., unable to assess; NAD, no abnormality detected; esp., especially