Prosthetic Fitting of Congenital Unilateral Ichthyosiform Erythroderma: A Case Report

R. G. Lewis, M.D. Duane G. Messner, M.D.


Congenital ichthyosiform erythroderma is a generalized disorder of the skin of relatively rare occurrence. It is characterized by a dermatological lesion of the skin with a microscopic pathological section showing hyperkeratosis, parakeratosis, acanthosis, and an absent granular layer. There is diffuse infiltration of histiocytes, lymphocytes, plasma cells, and occasional polymorphonuclear leukocytes and eosinophilic leukocytes in the papillary dermas to the mid-dermal layers.

In 1963 Rossman et al. described a female patient with a previously unreported finding of unilateral ichthyosiform erythroderma. In addition, their patient had hypoplastic limbs and a malformed kidney on the same side of the body as the dermatosis.

Cullen et al. studied and reported on a 5 1/2-month-old girl who was born with multiple unilateral defects. At birth this infant showed a right-sided hemiatrophy and on the fifth day the skin on this side of the body became involved with a scaly erythematous dermatitis. The bony abnormalities included an undersized right arm, right leg, and right side of the face and head. The small finger on the right hand was completely deformed and the other fingers of that hand had one joint only. There were two toes on the right foot. Multiple skin biopsies resulted in a diagnosis of ichthyosiform erythroderma.

We have seen and studied a similar patient at Children's Hospital, Denver, Colo. In the following case report similarities to the patients described by Rossman et al. and Cullen et al. are demonstrated.

Case History

This 4 1/2-week-old Caucasian girl was first seen in the Amputee Clinic, Children's Hospital, for multiple congenital anomalies. She was a first-born child and the product of a term pregnancy with normal delivery. It was noted that she had an atrophic right arm and a deformed right foot. A "scaly, dry, skin rash" was noted over the right shoulder and neck and in the right axilla. The patient appeared normal in all other respects.

Examination of the infant showed a phocomelia of the right upper extremity and a scaly, firm, dry, brownish dermatitis over the right shoulder, neck, arm, and axilla (Fig. 1 ). An asymmetry of the skull with depression of the right mastoid was evident (Fig. 2 ).

The right lower extremity was 1/4 in. shorter, and the right foot 1/2 in. shorter than the left with shortening of the third toe, and elongation and deviation of the second, fourth, and fifth toes (Fig. 3 ).

X-ray examination showed stippled calcific areas in the right upper extremity (Fig. 4 ), the right tarsal-metatarsal area (Fig. 5 ), and in the right pelvis and right side of the sella turcica. The third metatarsal was hypoplastic (Fig. 6 ).

The right lung was hypoplastic. Follow-up x-rays at one year of age showed that the right radius, ulna, metacarpals, and phalanges were hypoplastic (Fig. 7 ).

The infant was treated with a keratolytic ointment which controlled the dermatitis. However, it was felt that this condition would never actually be resolved. The question was raised whether a prosthetic device could be worn because of the skin disease.

A punch biopsy of the affected skin was performed and the findings were consistent with ichthyosiform erythroderma (Fig. 8 ).

At one year of age a single-wall shoulder socket with a simplified flexion-extension, abduction-adduction shoulder joint, and a curved, fixed, preflexed elbow was fitted with an infant friction-type wrist unit and an activated 12P terminal device. The patient is now able to activate the terminal device and the dermatitis has not been affected by the shoulder portion of the prosthesis (Fig. 9 ).

Discussion

This patient's clinical picture of a unilateral ichthyodermic dermatosis associated with ipsilateral limb deformities is essentially identical to that of the patients reported by Rossman and Cullen. The dissimilarity between their patients and the one reported here is primarily a matter of degree. Cullen et al. believed that such differences could be related to the effect of a teratogenic event at different ages of gestation. Rossman suggested that in order to account for the bony changes any teratogen involved was probably active near the fourth week of gestation. Our patient had no known prenatal insult other than an exposure to rubella during the first month of gestation. Zeligman believed that the skin changes in ichthyosiform erythroderma are similar to those of other skin dermatoses. However, these are of an abortive nature, such as ichthyosis hystrix and nevus unius lateralis. In the patients seen by Zeligman, Myerson, and others reporting these dermatological disorders, ipsilateral congenital malformations were not present. It is noteworthy that the dermatologic picture appears to be similar to an infective process clinically, and it might be expected that this skin picture would preclude the satisfactory fitting of a prosthetic device. We have found that the inclusion of the dermatitis in a prosthetic device in no way hampers the child's use of the device and does not tend to produce skin breakdown.

Summary

A case of congenital, unilateral, ichthyosiform erythroderma with associated ipsilateral congenital malformation has been presented. It is the opinion of the authors that this dermatologic problem does not preclude early prosthetic fitting. We believe this to be the third reported case of this syndrome.

Acknowledgments

We wish to express our appreciation to the Division of Dermatology, University of Colorado Medical Center, for its part in diagnosing congenital, unilateral, ichthyosiform erythroderma in the case reported above.

Bibliography

  1. Cullen, Stanley I., D. E. Harris, C. H. Carter, and W. B. Reed, "Congenital unilateral ichthyosiform erythroderma," Arch. Derm., 99:724-729, June 1969.

  2. Myerson, L. B., "Nevus unius lateralis, brain tumor, and diencephalic syndrome," Arch. Derm., 95:501-504, May 1967.

  3. Rossman, R. E., et al., "Unilateral ichthyosiform erythroderma," Arch. Derm., 88:567-571, Nov. 1963.

  4. Zeligman, I., and J. Pomeranz, "Variations of congenital ichthyosiform erythroderma," Arch. Derm., 91:120-125, Feb. 1965.

Drs. Lewis and Messner are associated with the Regional Amputee Center, Children's Hospital, Denver, Colorado