Harlequin ichthyosis (HI) is a rare congenital disease that primarily affects the skin. Its complications include syndactyly, which can cause severe constriction. Surgical release is thought to be helpful, but the details remain unclear due to a lack of data. We share our 5-year experience of a patient with HI with successful outcomes from five syndactyly release operations involving division, local flap interposition, and full-thickness skin grafts. A visible decrease in the ulnar deviation of the metacarpophalangeal joints and a wider range of motion were noted. There were no complications, except for one case of donor site dehiscence that was resolved after minor revision. The surgical design must conform to the anatomical structure, as it can be easily mistaken due to masking of the skin. A suitable donor site is a flat, non-folding surface, such as the lateral thigh.
Harlequin ichthyosis (HI) is a rare, autosomal recessive, severe genetic disorder that primarily affects the skin. It is characterized by hyperkeratosis and desquamation of the epidermidis, and patients are diagnosed at birth by their clinical appearance [
Four years ago, we reported a case of successful surgical treatment of syndactyly of a HI patient [
A female patient diagnosed with HI at birth visited our outpatient department at the age of 6 years. Her skin showed severe erythroderma with generalized scaling. Her ears and nose were poorly developed, and ectropion was seen. Due to contraction of the skin, most of her joint movements were limited. She also showed syndactyly of both hands and feet. For the hand, all web spaces were involved, and skin contracture, ulnar deviation in proximal, middle, distal IP joints and MCP joints were noted.
Sequentially, the patient underwent five divisions, local flap interposition and full-thickness skin graft (
The same method was used for each surgery. Basically, the conventional syndactyly surgery method was followed; with the use of local flaps and full-thickness skin grafts [
For the postoperative management, topical antibiotics was applied to the wound, moisturizer and oil were applied to the whole hand and compressive dressing with plain gauze and elastic bandage was maintained for about 1 week. The patient’s fingers were immobilized by tightly wrapping them with multiple layers of gauze, and no splinting was required. Only non-adherent dressing was used, and no direct taping was applied to the skin. After a week, open dressing with moisturizer and oil was done, and all stitches were removed 2 to 3 weeks after surgery. Flomoxef Na, a second-generation cephalosporin was given for 1 week. Postoperative stretching of the fingers was recommended 1 month after the surgery.
As for the donor site of the skin graft, the inguinal area was selected as in the conventional method. However, within 2 to 4 days, dehiscence occurred, and minor revision surgery was performed on the 12th day. Then on from the next surgery, the lateral thigh area was chosen as the skin graft donor site, and it healed well with no dehiscence or other complications (
After consecutive surgeries, visible decrease in the ulnar deviation of the MCP joints was noted on the X-ray (
There were no other complications such as infection, dehiscence, delayed healing, hematoma, and seroma other than the donor site dehiscence after our first surgery that was mentioned above (
HI is a rare genetic disorder with a short life expectancy in most cases. Thus, not much has been proven about this disease, and researches about syndactyly of HI patients are near to none [
Due to syndactyly, the patient cannot do a grasping motion and thus most activities are limited. However, after division surgery, movement of individual fingers and grasping became possible. Postoperative rehabilitation and stretching are thought to prevent worsening of contracture, but due to the patient’s young age and pain, compliance can easily fall low. So detailed explanations and encouragement to both the patient and their parents are needed.
When planning the surgery, the contracture and deviation of the hand is severe, so the surgical design must be done accordingly. This is because the actual bone structure may differ from what it looks like from the outside. The metacarpal bones and proximal phalanges can easily be mistaken because they are originally aligned in a straight line. However, in practice, it is necessary to recognize that each metacarpal bone and proximal phalanx are connected at an angle due to deviation, and design and surgery should be made accordingly.
The chosen skin graft donor for our first surgery was the left inguinal area. This is a common donor site for full-thickness skin graft and was thought to be a decent choice at that time [
As for the timing of surgical intervention, it is not well known due to lack of studies. For otherwise normal patients, it is recommended that syndactyly release should be done from 3 to 24 months depending on the type and web space involved. Also, if the patient needs multiple surgeries, the timing has to be at least 3 months apart [
Surgical intervention will always increase the possibility of infection, and in HI, such an infection is dangerous and can easily lead to a systemic infection, which is the leading cause of death in HI [
There are several limitations of this study. First, due to the rarity of the disease, we had no choice but to look at only one case, and direct comparison with other cases was not possible. Second, due to its retrospective nature, the hands were monitored only via X-rays and observational windows, which could be subjective and questionable. So, in the future, we shall check on objective results such as the DASH (Disabilities of Arm, Shoulder and Hand) score. Third, with a 5-year follow-up period, it is difficult to know the future results and prognosis, and longer follow-ups are needed.
In conclusion, for patients with HI, proper syndactyly release with full-thickness skin graft is important and can be done safely. Surgical design should follow the anatomical shape and position of the bones and soft tissue. A flat non-folding surface, such as the lateral thigh should be chosen as the skin graft donor site. Multiple surgeries with sufficient time intervals should also be considered for further improvements.
The authors have nothing to disclose.
None.
Sequential gross photographs. (A) Initial state at the age of 6 years and 7 months, showing incomplete syndactyly of all web spaces with skin contracture. (B) After the first operation (postoperative 6 months). (C) After the second operation (postoperative 5 months). (D) After the third operation (postoperative 5 months). (E) After the fourth operation (postoperative 10 months). (F) After the fifth operation (postoperative 1 month).
Sequential X-rays of the hands. (A) Initial state at the age of 6 years and 7 months, showing ulnar deviation in proximal, middle, and distal interphalangeal joints and metacarpophalangeal joints. (B) After the first operation (postoperative 1 year). (C) After the second operation (postoperative 4 months). (D) After the fourth operation (postoperative 9 months). For the ease of comparison, the right X-ray of Fig. 2A is reproduced from our previous report, Ahn et al. [
Photograph of intraoperative design of the fifth operation and preoperative X-ray of the left hand. (A) A surgical design that follows the anatomical shape and position of the metacarpus and proximal phalanxes. The yellow line shows a straight direction in which the alignment of the bones can be mistaken, and the red line shows the direction in which the bones are actually aligned. (B) X-ray view (inverted left and right).
Immediate postoperative photograph after the fifth operation. The left third web space is fully released with a full-thickness skin graft.
Healing of the donor site. Inguinal donor site after the first operation. (A) Postoperative 1 day. (B) Postoperative 10 days. Lateral thigh donor site after the second operation. (C) Immediate postoperative state. (D) Postoperative 3 years and 6 months, showing no signs of scarring.
Photograph of the patient grasping the joystick of an electric wheelchair, at the age of 11 years, after 1 year and 7 months had passed since the fifth and last operation.
Details of sequential operations
Variable | Surgical sequence |
||||
---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | |
Age at the time of surgery | 6 yr 7 mo | 7 yr 7 mo | 8 yr 3 mo | 8 yr 8 mo | 9 yr 6 mo |
Interval between operations (mo) | - | 12 | 8 | 5 | 10 |
Height (cm) | 109 | 110 | 112 | 115 | 117 |
Weight (kg) | 16.7 | 17.9 | 18 | 18 | 18 |
Operation site of hand | Right second IDS | Left second IDS | Left third IDS | Right third IDS | Left third IDS |
FTSG donor site | Left inguinal area | Left lateral thigh | Left lateral thigh | Right lateral thigh | Left lateral thigh |
Donor size (cm) | 6.0 × 2.5 | 6.5 × 3.0 | 6.5 × 3.0 | 6.0 × 2.0 | 6.0 × 2.0 |
Complication | Donor site dehiscence requiring minor revision | None | None | None | None |
IDS, interdigital space; FTSG, full-thickness skin graft.