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185

eccrine sweat glands in a Fabry disease patient with hypohidrosis. J Dermatol

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187

Figure legends

188

Figure 1 (a, b): Angiokeratoma of the left thigh. (a) Clinical image shows multiple,

189

raised, red-to-purple, hyperkeratotic papules on the thigh. (b) Electron microscopy

190

shows lamellar inclusions in endothelial cells on ultrastructural examination. (c):

191

Urinalysis revealed mulberry bodies.

192

Figure 2: Family pedigree: the index patient is marked with the arrowhead.

193

194

Table 1. α-galactosidase A activity in white blood cells of 17 patients diagnosed with

195

generalized hypohidrosis

Patient

Age

Sex

Medical history

No.

α-galactosidase A activity

Diagnosis

in white blood cells

(normal range: 49.6–

116 nmol/h/mg)

46

Chronic kidney disease,

50.2

AIGA

Hypertension, Atrial fibrillation

41

Atopic dermatitis-

103.3

AIGA

31

Systemic lupus erythematosus,

89.1

AIGA

Lupus nephritis

23

80.9

AIGA

29

72.7

Hypothalamicpitutary tumor

196

50

62.5

AIGA

43

Central diabetes insipidus

83.2

AIGA

50

80.4

AIGA

25

52.5

AIGA

10

18

Asthma

69.1

AIGA

11

30

Gender dysphoria

66.3

AIGA

12

26

30.6

AIGA

13

39

51.2

AIGA-

14

17

79.6

AIGA

15

43

70.2

AIGA

16

38

72.7

AIGA

17

20

Atopic dermatitis, Asthma

0.1

FD

AIGA: Acquired idiopathic generalized anhidrosis, FD: Fabry disease

Figure 1

Female

carrier

Figure 2

Female

Male

Confirmed

Fabry disease

-Hypohidrosis

-Left ventricular hypertrophy

27years

25years

20years

-Hypohidrosis

-Angiokeratoma

-Neuropathic pain

-Corneal opacity

18years

-Hypohidrosis

-Angiokeratoma

-Neuropathic pain

-Corneal opacity

-Urine protein(+)

16years

-Hypohidrosis

-Angiokeratoma

-Neuropathic pain

-Corneal opacity

-Basilar artery aneurysm

...