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CASE REPORTS
Ichthyosis Hystrix : A Case of Epidermal Naevus Syndrome
Sonali Tank, Sushma Malik, Kalika Bhagwat, Seema Pai, BM Kandalkar, Surekha Joshi
INTRODUCTION
Epidermal naevus syndrome (ENS) refers to a disease complex consisting of an association of an epidermal naevus with various developmental abnormalities of the skin, eyes, nervous system, cardiovascular system, skeletal system and urogenital system.1,2 ENS may be visible at birth or may develop within the first months or years of life.3 seven types of lesions in ENS have been described, of which, 20% are the ichthyosis hystrix variety. Here we report a case of Ichthyosis hystrix in a day twelve neonate.
CASE REPORT
A twelve-day male neonate born of non-consanguineous marriage was referred to us with the complaints of refusal to feed, breathlessness and skin hyperpigmentation noticed since birth. The delivery was uneventful and the patient was a full term IUGR baby (1.5 kg) who cried immediately after birth.
On examination, the baby was lethargic and had respiratory distress. A detailed general examination revealed hemihypertrophy of the right side of the body and left side of the face. There were dysmorphic features in the form of microphthalmia, microcephaly (HC = 29 cm), low set ears, retrognathia and prominent occiput. He also had undescended testes and equinovalgus deformity of the right foot. There was dermatomegaly with increased skin thickness and warmth and an extensive naevus on the entire back and both thighs posteriorly. In addition to the naevus, there were unilateral hyperpigmented streaks involving the trunk and right upper limb (same side as the hemihypertrophy) and multiple cafe-au-lait spots. The systemic examination was normal. A clinical diagnosis of septicaemia in a case of epidermal naevus was made and evaluation for ENS was being carried out.
A skeletal survey revealed right-sided bony hypertrophy (Fig. 1) which corresponded to the side of the hemihypertrophy. The X-ray chest revealed bilateral pneumonitis while ultrasound of the abdomen did not reveal any urogenital abnormalities. Ophthalmic examination revealed microphthalmia, nystagmus and extension of the naevus in the conjunctiva and sclera and similar pigmentation was found on fundus examination. MRI brain and 2D-ECHO of the heart could not be done in view of the patient’s clinical status. Investigations revealed leucocytosis with 20% band forms and the patient was treated for sepsis. However, the blood culture and CSF cultures were normal. On the third day of admission, the patient developed tachycardia, with a heart rate of 220 beats/min (probably an arrhythmia) and a systolic murmur. He then developed congestive cardiac failure and respiratory failure and succumbed despite treatment for the same.
Postmortem examination revealed a patent ductus arteriosus with patent foramen ovale, congested, gastric mucosa, gangrenous changes in the small intestine, interstitial haemorrhages in the lungs and microcephaly. There was also evidence of bony hyperplasia and skin histopathology revealed ichthyosis hystrix with unilateral hyperkeratotic streaks. The combination of the extensive naevus with involvement of the skeletal, cardiovascular, ophthalmic and nervous system in our patient contributed to a diagnosis of ichthyosis hystrix type of epidermal naevus syndrome.
DISCUSSION
Epidermal naevi are hamartamous lesions characterized by hyperplasia of the epidermis and/or adnexal structures in a focal area of the skin. Epidermal naevi when associated with other organ involvement is called as Epidermal naevus syndrome (ENS). ENS has been synonymously linked with Schimmelpenning syndrome, Feurstein syndrome and Mims syndrome. However, the naevi reported by these authors in each case were sebaceous naevi.1,2
Epidermal naevus syndrome (ENS) is believed to occur sporadically, but isolated cases of dominant transmission have been reported. Both sexes are equally affected and the naevi may present at birth or at any time up to 40 years. The exact incidence and aetiology is not known, but a recent study of 119 cases of epidermal naevi showed that 16% and 2 or more extra-cutaneous abnormalities, 10% had 3 or more abnormalities and 5% had 5 or more extra-cutaneous abnormalities.2,4 Solomon and Esterly2 described 7 types of lesions (among whom the majority had Unius lateris) and provided a detailed account of the spectrum.
The morphologic appearance may help to predict the histopathological type3,5,6 and this may in turn guide to involvement of other systems e.g. neurological and ocular complications seen in linear naevus sebaceous, skeletal seen with ichthyosis hystrix and naevus unius lateris.1,5
Systemic findings in epidermal naevus syndrome1,2,4,7
1. Cutaneous associations-
- epidermal naevi*,
- haemangioma and pigmentary changes
- dermatomegaly* (increased skin thickness, warmth and hairiness)
- cutaneous malignancies2. Skeletal abnormalities
- bone cysts, bone hyperplasia and/or hypertrophy*,
- chondroblastoma, spina bifida,
- kyphosis, scolisosis,
- syndactyly, polydactyly, clinodactyly and
- vitamin D resistant rickets (a variant of tumour induced osteomalacia)3. Neurologic abnormalities
- cerebrovascular accidents, malformations or neoplasma;
- cortical atrophy or blindness; mental retardation and seizures
- cranial nerve plasies; delayed milestones;
- encephalocoele; hydrocephalus;
- hemiparesis; spinal cord stenosis;
- microcephaly* or macrocephaly;
- intracerebral calcifications,4. Ocular findings
- astigmatism; bilateral cataracts; blocked tear ducts;
- coloboma of the lid, iris, choroids and retina;
- cortical blindness; micro*/macrophthalmia; ptosis;
- extension of the naevus to the eyelid,
conjunctiva or sclera*;
- optic nerve hypoplasia/atrophy and subretinal neovascularisation5. Urogenital involvement
- horseshoe kidneys, double ureters;
- clitoromegaly,
- undescended tests*6. Vascular findings
- aneurysms, arterio-venous malformations
- patent ductus arteriosus*, ventricular septal defect, hypoplastic left heart,
- arrhythmias7. Miscellanous findings
- teratoma,
- choanal atresia, pyloric stenosis, hernias,
- dental anomalies*(Our patient had the findings marked with an ASTERIX*)
Table 1 gives the various abnormalities of different systems involved in ENS. Pigmentary changes of the skin like cafe-au-lait spots*, hypopigmentation and melanocytic naevi are seen in 10-20% cases. Among the malignancies, there is a 15-20% risk of developing basal cell carcinoma.1,2,5,7 Skeletal abnormalities are seen in 15-70% cases.1,2,5 15-50% cases have neurologic abnormalities, of which, moderate to severe mental retardation and seizures are the commonest findings. Ocular findings vary from astigmatism to atrophy of the optic nerve and are seen in 9-30% cases. The other systems rarely involved are the vascular and urogenital tract.
MANAGEMENT
The major treatment consists of symptomatic therapy of the complications and for cosmetic purposes. The various modalities involve excision of small naevi, while treatment of the larger and facial naevi involves application of topical preparations, cryotherapy, electrodessication, dermabrasion, curettage and skin grafting.2,3,7
CONCLUSION
A diagnosis of epidermal naevus syndrome should be thought in patients with extensive epidermal naevi and or systemic abnormalities. A thorough muco-cutaneous, neurologic, ophthalmic and orthopaedic examination is necessary with specific investigations depending on the involved system. A regular follow-up is necessary due to the risk of malignant transformation of the naevi2,3,5 and development of systemic manifestations.
ACKNOWLEDGEMENT
The authors also wish to thank the Dean, Dr S Dahanukar for her permission in allowing us to publish this article.
REFERENCES
1. Atherton DJ, Rook A. Naevi and other developmental defects. In: Textbook of Dermatology. 4th edn. Eds. Rook A, Wilkinson DS, Ebling FJG, Champion RH, Burton JL. Oxford University press, Bombay, 1987: 178-9.
2. Ho VCY. Benign epithelial tumours. In: Epidermal and appendageal tumours. In: Fitzpatrick’s dermatology in general medicine. 5th edn. Eds. Freedburg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz S, Fitzpatrick TB. McGraw-Hil Division, NY, 1999: 881-2.
3. Darmstadt GL. Cutaneous nevi. In: The skin. In: Nelson Textbook of Pediatrics, 16th end. Eds. Behrman RE, Kliegman RM, Jenson HB. Harcourt Asia, Harcourt Publishers International Co. 2000: 980-1983.
4. Linear sebaceous nevus sequence. In: Smith’s recognisable patterns of human malformations. 5th edn. Ed. Jones KL, WB Saunders Co. Philadelphia. 1997: 500-1.
5. Purohit S, Joshi SM, Malik S, Gupta S. Linear sebaceous nevus syndrome. The Indian Practitioner 1995; XL VIII (No.11) : 1077-9.
6. Umakumaran P, Srinivas TP, Vishwanath D, Malya PP. Edpidermal nevus syndrome. Indian Pediatr 1995; 35 : 343-5.
7. Lovejoy FH, Boyle WE. Linear nevus sebaceous syndrome: report of two cases and a review of literature. Pediatr 1973; 52 : 382-7.
ENDOLUMINAL THERAPIES FOR GASTROESOPHAGEAL REFUSE DISEASE
The most interesting benefit of endoscopic therapies is the high proportion of patients able to discontinue PPI use after therapy. Some Physical endopoints also appear to confirm the effectiveness of the three endoscopic approaches. However, reduction of acid exposure after these procedures is far from impressive with only half of the patients returning to a physiological level. The fact that acid exposure does not return to normal, despite apparently excellent clinical results, is difficult to explain and suggests an important placebo effect in these uncontrolled studies. However, other beneficial effects cannot be excluded, such as mechanical action on regurgitation or on non-acid components of the refluxed material.
The effectiveness of these techniques has been mainly assessed over short periods (6 or 12 months), with no appropriate sham-controlled evaluation or comparison with other established medical or surgical strategies. Moreover, some severe, although very rare, complications (including, perforations) have been observed, especially during early experience with the Stretta procedure. Direct costs (eg, prices of the various products) are high at present and there is as yet no valid economic evaluation of these novel approaches.
Lancet, March, 2003; 361 : 1119-21.
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