Focal Dermal Hypoplasia: A Report Of Two Cases

William F. Stanek, M.D.


During the past six months, two cases with a diagnosis of focal dermal hypoplasia have been seen for follow-up at Children's Hospital, Denver. One of these children has a major limb deficit and is under treatment in the Amputee Clinic; the other presents skeletal changes consisting of syndactyly of the feet together with changes in the nails.

Focal dermal hypoplasia was described as an entity by Goltz, Peterson, Gorlin, and Ravits in 19621. The condition has since been reported as Goltz's syndrome. According to Holden and Akers2, "It has a unique and characteristic clinical picture consisting of linear areas of dermal hypoplasia, abnormal skin pigmentation, and fawn-colored nodules of adipose tissue in association with other congenital anomalies." These authors state that, including their own patients, 15 cases have been reported, all of them girls. The reports for the most part have appeared in the dermatological literature.

Cases Reported by Goltz

Goltz's three cases illustrated similar skin changes, with circumscribed irregular areas in which the skin was thin with herniations of adipose tissue in the form of yellowish papules. Some areas were brownish-red and considerably darker than the nearby normal skin. On the trunk and extremities, some of the depressed areas were smaller and whiter than the normal skin and were arranged in linear groupings. In these areas there were varying degrees of atrophy of the subcutaneous tissues. Goltz's cases showed dystrophy of the toenails and fingernails with striated longitudinal ridgings, thinness, and friability. One case showed gross deformity of the left hand and both feet, with syndactyly of the toes. In another, the ulnar side of the left hand was missing, the right thumb was small, and an extra digit had been removed between the right thumb and index finger. Eye defects, optic atrophy, and lack of retinal pigment were noted in one case; ocular strabismus, eye muscle weakness, and coloboma in another. From a dermatological standpoint, the most remarkable change consisted of widely distributed linear areas of hypoplasia of the skin.

Goltz describes the histopathology in detail, noting a similarity in all studies. The essential change was the presence in the corium of apparently normal adipose tissue. In some areas fat cells were seen in a broad band in the mid-corium, collagenous connective tissue above and below. In some areas small blood vessels coursed through the band of fat cells. In other places a little connective tissue remained, and the subcutaneous fat appeared to extend upward almost to the epidermis.

Goltz has observed that all of the children with this defect were females, and that other members of the family with similar defects have also been females. A high incidence of miscarriage occurred in the families. It is postulated that the defect is not sex-linked or limited in occurrence to females, but that it is incompatible with survival of the male beyond the early months of life.

Holden and Akers' Case

In reporting on a single case, Holden and Akers note a broad spectrum of developmental anomalies in the ectoderm and mesoderm. Dystrophic nails occurred in the majority of cases. Syndactyly was the most common musculoskeletal abnormality and involved both hands and feet. Polydactyly, clinodactyly, adactyly, and hypoplasia of the distal extremities were also noted. In their case, scoliosis was a prominent feature but has been reported only once previously. Their case and one other showed failure of fusion of the pubic bones. Mental retardation was noted in only one case in the series reviewed. Dental deficiencies were also noted.

Both Goltz and Holden and Akers discuss the differential diagnoses. The differentiating points are complex and more of interest to the dermatologist and the pediatrician than to the orthopedist.

Since Goltz's syndrome is rather uncommon, our two cases are described in considerable detail:

Case 1 (Denver)

T.S. is a white female, born January 29, 1965. She was the first child of a 22-year-old father and a 20-year-old mother, neither showing physical abnormalities. The mother's pregnancy and delivery were normal. There was no history of drug usage and no familial abnormalities were recorded. The mother described the child at birth as showing "strawberry marks" over all her extremities and head, with open sores on the skin. The left eye was noted to be abnormal, with some sensitivity to light and an enlarged pupil, but with a questionable amount of vision.

This child's father is in the Air Force, and she was born in Turkey. At the age of three months she was transferred to a hospital in Wiesbaden, Germany, where some type of operation was performed on the left arm consisting of a "bone shortening of the elbow." The patient was later transferred to Fitzsimons General Hospital, where a deformed left great toe was removed and a heel cord lengthening performed. The patient was fitted with a short leg brace.

The patient was first seen at the Amputee Clinic at Children's Hospital at the age of 27 months (Fig. 1 ). Her height was 33 1/2 inches, her weight 20 1/2 pounds. The child had an obviously pointed head, a coloboma of the left eye, and the ear canals were wide and short. The teeth were abnormal in shape and number. There was a soft systolic murmur, and the heart rate fluctuated rapidly between slow and fast.

On examination the skin of the left lower extremity revealed changes of a spider nevi type, which were reddish-pink in color and blanched completely with pressure. The popliteal area as well as the anterior and posterior aspects of the thigh had fatty deposits, which appeared to be in the skin. They were cysticlike in character, protruded from the skin surface, were yellowish in color, were irregular in outline, and on the posterior surface measured one-half inch in diameter. On the right lower extremity the fatty deposits were not evident. On the lateral aspect of the right thoracic cage an area of excoriative-like lesions was present, with some scarring of the surrounding tissue.

Skeletal Defects

Examination of the left upper extremity revealed full motion in the left shoulder, with atrophy of the deltoid and scapular muscles. The left humerus was approximately 1 1/2 inch shorter than the right. The left forearm was represented by a single bone embedded in soft tissues projecting from the anterior aspect of the distal humerus. It measured 3 inches in length. The elbow could be flexed to 170 degrees and extended to 50 degrees. A single digit projected from the distal end of the forearm. Some stability of this digit was noted, and circumferential movement was controlled by the forearm musculature. A good fingernail existed on the distal end.

The right upper extremity was normal except for the deformity of the fingernails, together with some contracture of the skin between the thumb and index finger.

The medial aspect of the left foot was absent. The foot was narrow, flat, and only two toes, presumably the fourth and fifth, were present. The ankle could be dorsiflexed 10 degrees and plantar-flexed 50 degrees. Approximately 10 degrees of subtalar motion was apparent.

The right lower extremity showed webbing between the third and fourth toes extending to the proximal interphalangeal joints. The knees and hips were within normal limits.

X-Ray Findings

X-rays of the left foot taken February 12, 1965, showed soft tissue structures resembling a great toe, with one bone, possibly a metatarsal, present in the mass which lay medial to the main portion of the foot and was attached to it in the region of the hindfoot. In the main portion of the foot an os calcis, two lateral metatarsals, and two phalanges were present. Later X-rays of the left foot showed the presence of an os calcis, one other metatarsal bone, possibly the cuboid, and two lateral metatarsals with phalanges distal to these two bones. The medial appendage has since been removed (Fig. 2 ).

X-rays of the left arm showed absence of the ulna and deformity of the radius, with dislocation of the radiohumeral joint. No carpal bones were present. A single metacarpal and two phalanges were evident (Fig. 3 ). The pelvis was characterized by abnormal widening of the symphysis pubis and some deformity of the femoral heads (Fig. 4 ).

The patient was fitted with a prosthesis incorporating an actively opening Dorrance 12P hook and a fixed elbow, with a trapdoor provided in the antecubital area to accommodate the forearm and single digit (Fig. 5 and 6 ). She has not experienced any difficulty in wearing the prosthesis because of the skin lesions.

Case 2 (Denver)

T.L.C., a white female, born July 19, 1954, was first seen at Children's Hospital, Denver, at the age of ten months. The father was then 27 years of age and the mother 22. The patient had one normal two-and-a-half-year-old brother. The family history noted imperforate anus in one maternal uncle and web toes in another. The original admission was for treatment of the left eye in which there was no vision and from which issued a purulent discharge.

Raised skin lesions were noted over the left side of the back and the left leg, with a few on the right leg. Three skin areas were biopsied. One section taken from an "old" lesion on the back was of skin and a small portion of subcutaneous tissue. The epithelium was not remarkable. The corium consisted of dense fibrous tissue containing foci of lymphocytes and monocytes associated with rete pegs. Sweat glands were present. The second specimen taken from a raised portion of the skin exhibited a little papillomatosis, dyskeratosis, and some edema of the corium which was infiltrated with lymphocytes, monocytes, and a few neutrophils. Sweat and sebaceous glands were seen. A third specimen represented a "new" lesion and was similar to the previous sections.

Skeletal Condition

The left leg was short and the left arm small. The digits of the second, third, fourth, and fifth toes on the left foot were fused, with the foot tending to assume a calcaneal valgus. On the right foot, a syndactylism involving the second and third digits was evident, with a minimal tendency to metatarsus varus. The extremities showed normal function and musculature. A skeletal survey revealed the entire skeleton to be dysplastic, "in that it did not show as good cortical bone as it should." There was no localized deformity or defect of the bone ends. The left side was less well-developed than the right, and on the right side the radial head was deformed.

During subsequent admissions, a congenital umbilical hernia was repaired. Development of a left lumbar scoliosis was reported, and a double kidney was found. The left eye was covered with a thin prosthesis.

At the age of seven the patient developed a tumor at the base of the tongue, which was found to consist of densely packed lymphoid tissue with prominent germinal centers compatible with tonsillar tissue.

At the age of eight years a stapling epiphysiodesis was performed on the distal epiphysis of the right femur. By ten years of age the left leg was 3/8 inch longer than the right, and the staples were removed. At the age of 13 years, a 3/4-inch shortening of the left leg was apparent, and a right dorsal, left lumbar scoliosis with marked underdevelopment of the left side was noted. At this time a Phemister type of epiphysiodesis was performed on the distal epiphysis of the right femur.

At age 13 years the patient is small, thin, and, because of the small left eye, poor dental development, and rather fine hair, appears old for her years. Her left side is underdeveloped. The patient walks with a more marked limp than is explained by the leg-length discrepancy. The tendon reflexes are normal. There is some general weakness of the musculature. No abnormality of mentality is noted. The skin lesions remain unchanged, with papular erythematous nodules scattered throughout the left side of the face, the shoulder, the arm, the mid-portion of the body, and the left leg. These are nontender, soft, and freely movable (Fig. 7 ).

Conclusion

Two cases have been described with characteristic findings of focal dermal hypoplasia, or Goltz's syndrome. The condition has been most often reported in the dermatological literature but is of interest to the orthopedic surgeon and to amputee clinics because of the limb deficiencies occasionally present.

William F. Stanek, M.D. is associated with the Children's Hospital Denver, Colorado

References:
1. Goltz, Robert, et al, "Focal Dermal Hypoplasia," Arch. Derm., 86: 52-61, 1962. 
2. Holden, Capt. J.D., and Akers, Lt. Col. W.A., "Goltz's Syndrome: Focal Dermal Hypoplasia," Diseases of Children, 114: 292-300, 1967.