|Year : 2018 | Volume
| Issue : 4 | Page : 360-362
Restrictive dermopathy: Report of two cases
Anisha K Janardhanan1, Sarita Sasidharanpillai2, Aparna S Vidya2, Babu Francis3, Mohandas Nair Karippoth3
1 Department of Dermatology, Baby Memorial Hospital, Kozhikode, Kerala, India
2 Department of Dermatology and Venereology, Government Medical College, Kozhikode, Kerala, India
3 Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India
|Date of Web Publication||28-Sep-2018|
Dr. Sarita Sasidharanpillai
“Rohini,” Girish Nagar, Nallalom PO, Kozhikode - 673 027, Kerala
Source of Support: None, Conflict of Interest: None
Restrictive dermopathy is a rare entity that is fatal in the neonatal period itself. The rigidity of the skin leads to erosions, contractures, and restriction of respiratory movements. Diagnosis is often made clinically with classical features such as low-set ears, micrognathia, small, and persistently open fixed “o”-shaped mouth, translucent, shiny, rigid skin with prominent superficial blood vessels, and pseudocontractures of limb joints. We report two cases of restrictive dermopathy observed in our center within 2 years period and suggest that this condition may not be as rare as believed.
Keywords: Neonate, restrictive dermopathy, skin rigidity
|How to cite this article:|
Janardhanan AK, Sasidharanpillai S, Vidya AS, Francis B, Karippoth MN. Restrictive dermopathy: Report of two cases. Indian J Paediatr Dermatol 2018;19:360-2
|How to cite this URL:|
Janardhanan AK, Sasidharanpillai S, Vidya AS, Francis B, Karippoth MN. Restrictive dermopathy: Report of two cases. Indian J Paediatr Dermatol [serial online] 2018 [cited 2020 Feb 25];19:360-2. Available from: http://www.ijpd.in/text.asp?2018/19/4/360/242415
| Introduction|| |
Restrictive dermopathy or lethal tight skin contracture syndrome is an extremely rare autosomal recessive laminopathy described by Witt et al. in 1986. We report two cases of restrictive dermopathy, both of which were fatal in the 1st week of life.
| Case Reports|| |
Thirty-two weeks, preterm, small for gestational age female baby with a birth weight of 1.2 kg was referred to us. She was the first progeny of a nonconsanguineous marriage. The child was born following preterm premature rupture of membranes; the antenatal period was otherwise uneventful with a normal anomaly scan at the 20th week of gestation. At birth, the child had a weak cry and had to be resuscitated with endotracheal intubation and positive pressure ventilation with oxygen and adrenaline. APGAR score remained two both at one and at 5 min. The heart rate increased from 30/min at birth to 130/min after resuscitation. Respiratory rate was 52/min. Clinical examination revealed facial dysmorphism (hypertelorism, antimongoloid slant, low-set ears, micrognathia, small and persistently open fixed “o”-shaped mouth and pinched nose) [Figure 1], translucent, shiny, rigid skin with prominent superficial blood vessels and pseudocontractures of limb joints [Figure 2]. Vesicles and blisters appeared soon after birth, mainly on flexures and pressure areas and they ruptured to form erosions. Hair and nails were normal, and there were no prenatal teeth.
|Figure 1: Child with restrictive dermopathy manifesting hypertelorism, antimangaloid slant, low-set ears, micrognathia, small and persistently open fixed “o”-shaped mouth and pinched nose)|
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|Figure 2: Translucent shiny rigid skin with prominent superficial blood vessels and pseudocontractures of limb joints in restrictive dermopathy|
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Two years later, we saw another preterm small for gestational age female baby (delivered at 31 weeks of gestation with birth weight 1.1 kg) who was also delivered following preterm premature rupture of membrane. The child was the first born of her parents. There was no history of consanguinity. The antenatal period was uneventful with a normal anomaly scan at 20 weeks. APGAR at birth and after 5 min was 3. The baby was resuscitated and intubated.
The child had clinical features which were an exact replica of the first case [Figure 3].
|Figure 3: Child with restrictive dermopathy showing the typical facies, prominent superficial blood vessels and flexion contractures|
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Skin biopsy could not be performed in both cases since parents refused to give consent. The planned skeletal survey and molecular diagnosis could not be carried out since babies expired on the 2nd and 3rd day of life, respectively, and since parents refused an autopsy.
The typical clinical presentation and the fatal course in the early days of life pointed to the diagnosis of restrictive dermopathy in both cases.
| Discussion|| |
In restrictive dermopathy, the rigidity of skin leads to secondarily generalized flexion contractures and restriction of respiratory movements resulting in early death. In addition to the clinical features observed in our cases, other manifestations reported include rocker bottom feet and prenatal teeth.
Heterozygous mutations documented in ZMPSTE24 gene, its recurrence in families and its association with consanguinity support a simple autosomal recessive mode of inheritance for restrictive dermopathy., ZMPSTE24 codes for a zinc metalloproteinase that plays a role in lamin A maturation. In restrictive dermopathy, accumulation of farnesyl-prelamin A occurs at the nuclear membrane. The recent identification of a single inactivating heterozygous mutation in ZMPSTE24 in unrelated, nonconsanguineous families suggests a digenic mode of inheritance also.
Restrictive dermopathy is caused by a primary defect in synthesis and orientation of collagen and a significant reduction in elastic tissue. The same mechanism in fetal membranes causes amniotic fragility. The reduced strength of chorion and the lack of its normal support are postulated to precipitate chorion amnion separation that results in premature rupture of membranes as observed in our cases.
Diagnosing restrictive dermopathy is rather straightforward with the typical clinical features. Characteristic histology features described in skin biopsy are thin dermis, flattening of rete ridges, the paucity of skin appendages, abnormal dense collagen bundles that run parallel to the epidermis, and near total absence of elastic fibers. Dermal patches of dense collagen, fibroblasts with abundant endoplasmic reticulum and unusually, small tonofilaments are the reported electron microscopy findings. Genetic analysis to detect ZMPSTE24 mutation and radiological investigations for skeletal changes such as enlarged fontanelles, clavicular dysplasia, and reduced bone density may help in doubtful cases.,,,
The differential diagnoses considered in our cases were Pena-Shokeir phenotype, cerebro-oculo-facio-skeletal syndrome, lethal multiple pterygium syndrome, and Neu Laxova syndrome. Predominant features of Pena Shokier phenotype are multiple ankylosis, pulmonary hypoplasia and facial dysmorphism. In cerebro-oculo-facio-skeletal syndrome deformities of the eye and spine predominates. The features that favored a diagnosis of restrictive dermopathy in our patients were persistently open fixed “o”-shaped mouth, translucent, shiny, rigid skin with prominent superficial blood vessels and flexural erosions. In addition, our cases lacked the multiple pterygium of lethal multiple pterygium syndrome and characteristic edema and ichthyosis of Neu Laxova syndrome.,,
Diagnosing the condition is important to define prognosis, for genetic counseling and for prenatal diagnosis. Clue to prenatal diagnosis lies in decreased fetal movement and joint contractures detected in high-resolution or three-dimensional ultrasound scanning after 16 weeks, but these are rather nonspecific so that it is difficult to decide on therapeutic abortions., Chorionic villous sampling at 22–24 weeks of gestation help in prenatal diagnosis. This was not performed in either of our patients in the absence of similar history in any of the family members.
No therapeutic options are available to date, and it is recommended to avoid unnecessary interventions considering the certain fatal course of the disease in the neonatal period itself. Secondary infections and respiratory insufficiency are the major causes of death and mostly occur within the 1st week of life.
Around eighty cases of restrictive dermopathy are reported worldwide. The study observation of two cases of restrictive dermopathy in 2 years from the same center suggests that the attributed rarity of the condition could be partly due to nondiagnosis caused by the medical unfamiliarity with this entity.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]