Case Report
J Clin Ultrasound 20:132-134, February 1992 CCC 0091-27511921020132-03$04.00 0 1992 by John Wiley & Sons, Inc.
Prenatal Ultrasonic Features in a Rare Case of Congenital Ichthyosis (Harlequin Fetus) Israel Meizner, MD
The term harlequin fetus refers to a severe and dramatic form of congenital ichthyosis. Whereas mild and moderately severe forms of ichthyosis are relatively common disorders, the harlequin fetus represents a rare condition with less than 100 cases described in the world's literature.' The prenatal sonographic diagnosis of the disorder has been previously reported only once.2 We report another case where some of the remarkable ultrasonic markers of congenital ichthyosis, not described before, pointed to the possible existence of this pathology. CASE REPORT
A 32-year-old Bedouin woman, gravida 6, para 5, was sent for a ultrasonic scan because of reduced fetal movements at 31 weeks, menstrual age. Her prior medical history was uneventful, and five previous 38-week to 40-week gestations had ended in the delivery of healthy infants weighing between 2.8 kg and 3.6 kg. During her present pregnancy the patient attended the antenatal clinic only once, at 13 weeks. On ultrasound examination a single fetus, in vertex presentation, was observed. No fetal movements were detected during an observation period of 30 minutes. Normal internal viscera were noted. The hands and legs appeared swollen, but not to a measurable degree. All biometric measurements corresponded perfectly with menstrual age. In viewing the fetal face the mouth appeared large and oval, being wide open (Figure 1).The tongue was large, moving up and down in the large mouth. No external nose was evident, but two holes where the nose should From the Ultrasound Unit, Department of Obstetrics and Gynecology, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. For reprints contact I. Meizner, MD, Ultrasound Unit, Division of Obstetrics and Gynecology, Soroka Medical Center, P.O. Box 151, Beer-Sheva 84101, Israel.
132
have been were noticed (Figure 2). The eyes appeared as two bulging lumps. Based on the sonographic features of the face, the diagnosis of harlequin fetus was suspected. Two days later the fetus died in utero. At delivery, the newborn infant had dry and hard skin cracked in many places, somewhat resembling scales of a fish (Figure 3). Deep reddishbrown or purple fissures divided the thickened gray o r yellow-colored skin into polygonal, triangular, or diamond-shaped plaques. The mouth was large, round, and wide open. The nose was hypoplastic, but there were two holes above the mouth representing the nostrils. The globes of the eyes were obscured by marked ectropion of the palpebral conjunctivae. Typical eclabium (eversion of the lips) was evident. These morphologic features were characteristic of a harlequin fetus. DISCUSSION
This severe type of congenital ichthyosis should not be confused with harlequin color change. This rare disorder may represent the extreme form of lamellar ichthyosis (nonbullous congenital ichthyosiform erythroderma). Because of the rarity of this condition and the short life span of affected individuals (6 weeks or less), the place of this disorder in the spectrum of ichthyosis remains controversial. The presence of familial cases and consanguinity among the parents of some of the patients suggest that the disorder is inherited as an autosomal recessive trait.3 Although the nature of the abnormality is not clear, X-ray diffraction analysis performed on the horny layer of one harlequin fetus has demonstrated an abnormal cross-B fibrous protein as the major keratinous c ~ m p o n e n tAnother .~ such infant was found to have elevated levels of cholesterol and triglyceride in the upper epidermis as well as evidence of excess lipid deposits on electron microscopy of the skin.'
PRENATAL FEATURES IN CONGENITAL ICHTHYOSIS
133
FIGURE 1. Coronal ultrasound scan of the fetal face. The arrows indicate the widely opened mouth. Note the tongue in the center of the mouth.
FIGURE 2. Oblique coronal scan of the fetal face. The arrows indicate the apertures where the nose would have been. Again, note the huge mouth.
The appearance and the consistency of the skin of these infants has inspired innumerable metaphors. It has been compared to baked apple, tree bark, a loosely built wall, elephant or rhinoceros skin, and Moroccan leather. The skin is hard, brown, cracked, and rigid. Rigidity of the skin about the eyes results in marked ectropion, everted 0-shaped lips with a gaping fish-mouth deformity, and a distorted, flattened, and undeveloped appearance of the nose and ears, all of VOL. 20, NO. 2, FEBRUARY 1992
which add to the grotesque clown-like appearance of the infant. Extreme inelasticity of the skin is associated with flexion deformity of all joints of the limbs. Mihalko and colleagues' have reported on a case of prenatal diagnosis of congenital ichthyosis. On ultrasound examination, two distinct findings were noted: (1)a thick membrane floating within the amniotic fluid continuous with the fetal chest (later proven to be sloughed, ab-
134
CASE REPORT: MEIZNER
floating in the amniotic cavity has been reported to exist in fetuses suspected of having skin denudation disorder^.^ The finding of intrauterine membranes points to another etiology for this sonographic marker. The sonographic signs leading to prenatal diagnosis of the harlequin fetus thus may include (1) widely opened mouth, (2) hypoplastic nose with evident apertures corresponding to the nostrils, (3) large ectropion, (4)lack of fetal breathing movements, ( 5 ) “edematous-like” limbs, and (6) intrauterine membranes. Therapy is ineffective, and most infants born with this disorder are stillborn or expire within the neonatal period. The longest survival reported to date has been 6 weeks. Death is frequently a result of pneumonia associated with hypoventilation due to thoracic rigidity, or sepsis as a result of cutaneous i n f e ~ t i o nGenetic .~ counseling for the families of these infants is mandatory.
REFERENCES
FIGURE 3. The grotesque clown-like appearance of the infant seen at birth. Note the 0-shaped mouth and absent nose.
normally thickened skin), and (2) marked ectropion. In our case the most striking sono@aphic finding was the marked eclabium. Both eclabium and ectropion are, therefore, the main facial abnormalities amenable to ultrasonic prenatal diagnosis of congenital ichthyosis. The “snowflake sign” reflecting skin particles
1. Buxhan M, Goodkin PE, Fahrenbach WH et al: Harlequin ichthyosis with epidermal lipid abnormality. Arch Dermatol 115:189, 1979. 2 . Mihalko M, Lindfors KKI, Grix AW et al: Prenatal sonographic diagnosis of harlequin ichthyosis. AJR 153:827, 1989. 3. Craig JM, Goldsmith JA, Baden H: Abnormality of keratin in the harlequin fetus. Pediatrics 46:437, invn
1JIU.
4. Meizner I, Carmi RL: The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation. J Ultrasound Med 9:607, 1990. 5. Esterly NB: Harlequin fetus. In Clinical Dermatology (Vol 11, Denis DJ, Dobson RL, McGuire J (eds). Harper & Row, Hagerstown, MD, 1977, 1-3.
JOURNAL OF CLINICAL ULTRASOUND
J Clin Ultrasound 20:132-134, February 1992 CCC 0091-27511921020132-03$04.00 0 1992 by John Wiley & Sons, Inc.
Prenatal Ultrasonic Features in a Rare Case of Congenital Ichthyosis (Harlequin Fetus) Israel Meizner, MD
The term harlequin fetus refers to a severe and dramatic form of congenital ichthyosis. Whereas mild and moderately severe forms of ichthyosis are relatively common disorders, the harlequin fetus represents a rare condition with less than 100 cases described in the world's literature.' The prenatal sonographic diagnosis of the disorder has been previously reported only once.2 We report another case where some of the remarkable ultrasonic markers of congenital ichthyosis, not described before, pointed to the possible existence of this pathology. CASE REPORT
A 32-year-old Bedouin woman, gravida 6, para 5, was sent for a ultrasonic scan because of reduced fetal movements at 31 weeks, menstrual age. Her prior medical history was uneventful, and five previous 38-week to 40-week gestations had ended in the delivery of healthy infants weighing between 2.8 kg and 3.6 kg. During her present pregnancy the patient attended the antenatal clinic only once, at 13 weeks. On ultrasound examination a single fetus, in vertex presentation, was observed. No fetal movements were detected during an observation period of 30 minutes. Normal internal viscera were noted. The hands and legs appeared swollen, but not to a measurable degree. All biometric measurements corresponded perfectly with menstrual age. In viewing the fetal face the mouth appeared large and oval, being wide open (Figure 1).The tongue was large, moving up and down in the large mouth. No external nose was evident, but two holes where the nose should From the Ultrasound Unit, Department of Obstetrics and Gynecology, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. For reprints contact I. Meizner, MD, Ultrasound Unit, Division of Obstetrics and Gynecology, Soroka Medical Center, P.O. Box 151, Beer-Sheva 84101, Israel.
132
have been were noticed (Figure 2). The eyes appeared as two bulging lumps. Based on the sonographic features of the face, the diagnosis of harlequin fetus was suspected. Two days later the fetus died in utero. At delivery, the newborn infant had dry and hard skin cracked in many places, somewhat resembling scales of a fish (Figure 3). Deep reddishbrown or purple fissures divided the thickened gray o r yellow-colored skin into polygonal, triangular, or diamond-shaped plaques. The mouth was large, round, and wide open. The nose was hypoplastic, but there were two holes above the mouth representing the nostrils. The globes of the eyes were obscured by marked ectropion of the palpebral conjunctivae. Typical eclabium (eversion of the lips) was evident. These morphologic features were characteristic of a harlequin fetus. DISCUSSION
This severe type of congenital ichthyosis should not be confused with harlequin color change. This rare disorder may represent the extreme form of lamellar ichthyosis (nonbullous congenital ichthyosiform erythroderma). Because of the rarity of this condition and the short life span of affected individuals (6 weeks or less), the place of this disorder in the spectrum of ichthyosis remains controversial. The presence of familial cases and consanguinity among the parents of some of the patients suggest that the disorder is inherited as an autosomal recessive trait.3 Although the nature of the abnormality is not clear, X-ray diffraction analysis performed on the horny layer of one harlequin fetus has demonstrated an abnormal cross-B fibrous protein as the major keratinous c ~ m p o n e n tAnother .~ such infant was found to have elevated levels of cholesterol and triglyceride in the upper epidermis as well as evidence of excess lipid deposits on electron microscopy of the skin.'
PRENATAL FEATURES IN CONGENITAL ICHTHYOSIS
133
FIGURE 1. Coronal ultrasound scan of the fetal face. The arrows indicate the widely opened mouth. Note the tongue in the center of the mouth.
FIGURE 2. Oblique coronal scan of the fetal face. The arrows indicate the apertures where the nose would have been. Again, note the huge mouth.
The appearance and the consistency of the skin of these infants has inspired innumerable metaphors. It has been compared to baked apple, tree bark, a loosely built wall, elephant or rhinoceros skin, and Moroccan leather. The skin is hard, brown, cracked, and rigid. Rigidity of the skin about the eyes results in marked ectropion, everted 0-shaped lips with a gaping fish-mouth deformity, and a distorted, flattened, and undeveloped appearance of the nose and ears, all of VOL. 20, NO. 2, FEBRUARY 1992
which add to the grotesque clown-like appearance of the infant. Extreme inelasticity of the skin is associated with flexion deformity of all joints of the limbs. Mihalko and colleagues' have reported on a case of prenatal diagnosis of congenital ichthyosis. On ultrasound examination, two distinct findings were noted: (1)a thick membrane floating within the amniotic fluid continuous with the fetal chest (later proven to be sloughed, ab-
134
CASE REPORT: MEIZNER
floating in the amniotic cavity has been reported to exist in fetuses suspected of having skin denudation disorder^.^ The finding of intrauterine membranes points to another etiology for this sonographic marker. The sonographic signs leading to prenatal diagnosis of the harlequin fetus thus may include (1) widely opened mouth, (2) hypoplastic nose with evident apertures corresponding to the nostrils, (3) large ectropion, (4)lack of fetal breathing movements, ( 5 ) “edematous-like” limbs, and (6) intrauterine membranes. Therapy is ineffective, and most infants born with this disorder are stillborn or expire within the neonatal period. The longest survival reported to date has been 6 weeks. Death is frequently a result of pneumonia associated with hypoventilation due to thoracic rigidity, or sepsis as a result of cutaneous i n f e ~ t i o nGenetic .~ counseling for the families of these infants is mandatory.
REFERENCES
FIGURE 3. The grotesque clown-like appearance of the infant seen at birth. Note the 0-shaped mouth and absent nose.
normally thickened skin), and (2) marked ectropion. In our case the most striking sono@aphic finding was the marked eclabium. Both eclabium and ectropion are, therefore, the main facial abnormalities amenable to ultrasonic prenatal diagnosis of congenital ichthyosis. The “snowflake sign” reflecting skin particles
1. Buxhan M, Goodkin PE, Fahrenbach WH et al: Harlequin ichthyosis with epidermal lipid abnormality. Arch Dermatol 115:189, 1979. 2 . Mihalko M, Lindfors KKI, Grix AW et al: Prenatal sonographic diagnosis of harlequin ichthyosis. AJR 153:827, 1989. 3. Craig JM, Goldsmith JA, Baden H: Abnormality of keratin in the harlequin fetus. Pediatrics 46:437, invn
1JIU.
4. Meizner I, Carmi RL: The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation. J Ultrasound Med 9:607, 1990. 5. Esterly NB: Harlequin fetus. In Clinical Dermatology (Vol 11, Denis DJ, Dobson RL, McGuire J (eds). Harper & Row, Hagerstown, MD, 1977, 1-3.
JOURNAL OF CLINICAL ULTRASOUND
