LETTER TO EDITOR
Repeated hyperhidrosis and chilblain-like swelling with
ulceration of the fingers and toes in hereditary sensory and
autonomic neuropathy type II
Dear Editor
We report a case of hereditary sensory and autonomic
neuropathy type II (HSAN-II), involving repeated hyperhidrosis
and chilblain-like swelling with ulceration of the fingers and
toes of unknown cause. These symptoms were similar to scle-
rodactyly and a certain type of systemic sclerosis but did not
satisfy any criteria. Dermatologists should recognize such rare
hereditary sensory and autonomic neuropathy associated with
various skin manifestation.
The patient was a 43-year-old woman with no particular
past medical history, and her grandmother had osteoarthritis.
The patient had suffered repeated hyperhidrosis and chilblain-
like swelling with ulceration of the fingers and toes of unknown
cause since approximately 17 years of age. At 38 years of
age, she visited the Dermatological Department of Wakayama
Medical University Hospital for the chief complaints of
hyperhidrosis and shortening of the fingers and toes (Fig. 1a,
b). During subsequent follow up, development of cracks in the
fingers without obvious infection was observed. Excessive
sweating was marked in the palms and soles. Routine labora-
tory findings showed no particular results. Collagen diseases
were not suggested.
No abnormality was noted in the cranial nerve system, and
muscle atrophy and weakness were absent in the motor
system. On sensory nerve conduction studies, the median and
ulnar sensory nerve action potentials were markedly reduced
on bilateral sides, and no action potential was evoked in the
peroneal nerve on either side.
Radiograms of the bilateral second to fifth fingers showed
marked shortening, in which the distal phalanges were lost and
only the proximal ends of the middle phalanges remained.
Shortening of the bilateral first phalanges was also noted,
mainly on the right side (Fig. 1c). The radiograms of the toes
showed erosion and destruction of bones and deviation of
bone fragments. A skin biopsy had no characteristic findings.
The sequence study detected a homozygous 1-base inser-
tion generating a premature stop codon (c.3237_3238insT,
p.Asp1080X) in the WNK1 (WNK1/HSN2) gene, which is known
to be the cause of HSAN-II.
Under careful dermatological treatments including topical
tretinoin tocopherol ointment, no infection occurred in the
fingers but all fingers gradually shortened (Fig. 1d).
Hereditary sensory and autonomic neuropathy is a rare heredi-
tary peripheral nerve disorder, which mainly manifests sensory
Correspondence: Fukumi Furukawa, M.D., Ph.D., Takatsuki Red Cross Hospital, 1-1-1 Abuno, Takatsuki, Osaka 569-1096, Japan. Email:
h7gygyff@gmail.com
(a)
(b)
(c)
(d)
Figure 1. (a) Shortening of the fingers. (b)
Shortening of the toes. (c) X-ray findings
of the fingers. (d) Shortening of the fingers
after 5 years.
1 © 2018 Japanese Dermatological Association
doi: 10.1111/1346-8138.14336 Journal of Dermatology 2018; : 1–2