Case of the Spring Kong
Meng
Tan,
T
HIS 22-year-old woman was admitted for dental rehabilitation. She had had skin lesions since birth, a trait shared by three of her seven siblings. All three had died in childhood, apparently from problems involving their common
Season M.D.
disease. She had had difficulty in swallowing solid food. Physical examination revealed an underdeveloped, emaciated female with marked splenomegaly. Severe widely disseminated skin changes with secondary infection and scarring were present. All her fingernails were absent and scalp hair was scanty. Joint contractions, especially involving both hands, were present, as were extensive caries and gingival abscesses. Laboratory workup revealed iron deficiency anemia. A barium esophogram and roentgenograms of the hands were obtained.
Kong Meng Tan, M.D.: Department of Radiology, Permanente Medical Group, Kaiser Foundation Hospital, Richmond, Cali&; formerly, Senior Resident in Radiology, Illinois Masonic Medical Center, and Instructor in Radiology, University of Illinois College o,f Medicine, Chicago, Ill. o I9 76 by &rune & Stratton, Inc.
Fig. 1.
Seminars
in Roenfgenology,
Vol.
Xl,
No.
2 (April),
1976
85
86
KONG
MENG
TAN
Fig. 2.
EPIDERMOLYSIS BULLOSA DYSTROPHICA (RECESSIVE TYPE)
The diagnosiswasobvious clinically. The distinct roentgenographicfeaturesof this condition include the upper and lower thoracic esophagealstenoses (Fig. I), soft-tissue webbing between the fingers almost up to the proximal interphalangealjoints, and the characteristic wedge-shapedthinning of the distal phalangesespeciallyin the AP diameter. A claw hand deformity due to flexion contractions at the metacarpophalangealjoints is also present (Fig. 2). Although a differential diagnosiscould be developed for each of the changesdiscussed,the combination of acquired webbing, wedging of the distal phalanges, and a claw (or closed fist) deformity is pathognomonic for epidermolysis bullosa.’ The skin changesin this disease-vesicles, bullae, and ulcers-result from slight trauma disrupting the cohesion between the epidermis and the dermis.’ Five distinct types of epidermolysisbullosa are described. Of these, the dystrophic types are in-
herited through either dominant or recessivegenes. In the dominant type, minimal skin scarring occurs, and the diseaseis mild in character. The recessivetype shows dramatic changesand is a more severeand sometimeslethal disease,even in children. Severe skin thickening and scarring and lossof nails occur in the recessiveversion. Scarring may be so extensive that the entire hand may be encasedin a complete pouch of skin. Thesechanges may sometimesalso involve the feet. Extensive cariesand dental abscesses develop early in life. Other roentgenographicsignsinclude slenderand overly constricted long bones, generalized mild osteoporosis,retarded epiphysealdevelopment,and amputation of the distal phalangessecondary to atrophy of the overlying skin. Severeinvolvement of the esophageallining causesstenosesand subsequent dysphagia and malnourishment. The esophageallesion may occur at any level, although it is more often found in the upper or lower third. The strictures may be ring-like, or may cause gradualand smooth tapering of the barium column above and below the lesion (Fig. 1). Peristalsis
CASE
OF
THE
SPRING
87
SEASON
proximal to the lesion may be normal. Occasionally, dilatation of this area may be present. Complications of esophageal involvement include lodgement of food, hemorrhage, rupture, and malnutrition, with death mainly due to the last.3 A hiatus hernia secondary to acquired shortening of the esophagus has been reported.’ Esophageal wall ulcer and abscess’ are additional complications. Treatment is conservative. Temporary relief of the dysphagia follows careful bougienage and dila-
tation. Prognosis is poor, especially if severe esophageal involvement is present. REFERENCES 1. Alpert M: Roentgen manifestations of epidermolysis bullosa. Am J Roentgen01 78:66-72, 1957 2. Becker MH, Swinyard CA: Epidermolysis bullosa dystrophica in children: Radiologic manifestations. Radiology 90:124-128, 1968 3. Nix TE Jr, Christianson HB: Epidermolysis bullosa of the esophagus: Report of two cases and review of the literature. South Med J 58:612-620, 1965
Meng
Tan,
T
HIS 22-year-old woman was admitted for dental rehabilitation. She had had skin lesions since birth, a trait shared by three of her seven siblings. All three had died in childhood, apparently from problems involving their common
Season M.D.
disease. She had had difficulty in swallowing solid food. Physical examination revealed an underdeveloped, emaciated female with marked splenomegaly. Severe widely disseminated skin changes with secondary infection and scarring were present. All her fingernails were absent and scalp hair was scanty. Joint contractions, especially involving both hands, were present, as were extensive caries and gingival abscesses. Laboratory workup revealed iron deficiency anemia. A barium esophogram and roentgenograms of the hands were obtained.
Kong Meng Tan, M.D.: Department of Radiology, Permanente Medical Group, Kaiser Foundation Hospital, Richmond, Cali&; formerly, Senior Resident in Radiology, Illinois Masonic Medical Center, and Instructor in Radiology, University of Illinois College o,f Medicine, Chicago, Ill. o I9 76 by &rune & Stratton, Inc.
Fig. 1.
Seminars
in Roenfgenology,
Vol.
Xl,
No.
2 (April),
1976
85
86
KONG
MENG
TAN
Fig. 2.
EPIDERMOLYSIS BULLOSA DYSTROPHICA (RECESSIVE TYPE)
The diagnosiswasobvious clinically. The distinct roentgenographicfeaturesof this condition include the upper and lower thoracic esophagealstenoses (Fig. I), soft-tissue webbing between the fingers almost up to the proximal interphalangealjoints, and the characteristic wedge-shapedthinning of the distal phalangesespeciallyin the AP diameter. A claw hand deformity due to flexion contractions at the metacarpophalangealjoints is also present (Fig. 2). Although a differential diagnosiscould be developed for each of the changesdiscussed,the combination of acquired webbing, wedging of the distal phalanges, and a claw (or closed fist) deformity is pathognomonic for epidermolysis bullosa.’ The skin changesin this disease-vesicles, bullae, and ulcers-result from slight trauma disrupting the cohesion between the epidermis and the dermis.’ Five distinct types of epidermolysisbullosa are described. Of these, the dystrophic types are in-
herited through either dominant or recessivegenes. In the dominant type, minimal skin scarring occurs, and the diseaseis mild in character. The recessivetype shows dramatic changesand is a more severeand sometimeslethal disease,even in children. Severe skin thickening and scarring and lossof nails occur in the recessiveversion. Scarring may be so extensive that the entire hand may be encasedin a complete pouch of skin. Thesechanges may sometimesalso involve the feet. Extensive cariesand dental abscesses develop early in life. Other roentgenographicsignsinclude slenderand overly constricted long bones, generalized mild osteoporosis,retarded epiphysealdevelopment,and amputation of the distal phalangessecondary to atrophy of the overlying skin. Severeinvolvement of the esophageallining causesstenosesand subsequent dysphagia and malnourishment. The esophageallesion may occur at any level, although it is more often found in the upper or lower third. The strictures may be ring-like, or may cause gradualand smooth tapering of the barium column above and below the lesion (Fig. 1). Peristalsis
CASE
OF
THE
SPRING
87
SEASON
proximal to the lesion may be normal. Occasionally, dilatation of this area may be present. Complications of esophageal involvement include lodgement of food, hemorrhage, rupture, and malnutrition, with death mainly due to the last.3 A hiatus hernia secondary to acquired shortening of the esophagus has been reported.’ Esophageal wall ulcer and abscess’ are additional complications. Treatment is conservative. Temporary relief of the dysphagia follows careful bougienage and dila-
tation. Prognosis is poor, especially if severe esophageal involvement is present. REFERENCES 1. Alpert M: Roentgen manifestations of epidermolysis bullosa. Am J Roentgen01 78:66-72, 1957 2. Becker MH, Swinyard CA: Epidermolysis bullosa dystrophica in children: Radiologic manifestations. Radiology 90:124-128, 1968 3. Nix TE Jr, Christianson HB: Epidermolysis bullosa of the esophagus: Report of two cases and review of the literature. South Med J 58:612-620, 1965
