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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