A case of zosteriform verrucous epidermal nevus at an unusual location.
Abstract Verrucous epidermal nevus is a common type of keratinocyte hamartoma present at birth or occurring later in life. It affects about one in every thousand live births. It is seen at any site usually found on the lower extremities but is less common on the head and neck. We present a unique case of a female patient aged 12 years affected by zosteriform verrucous epidermal nevus over neck a rare presentation.
Epidermal nevus epidermal verrucous nevus keratinocytes zosteriform.
Naevus is the Latin word for maternal impression' or birthmark' and indicates a circumscribed non-neoplastic skin or mucosal lesion usually present at or soon after birth and fixed.
Verrucous epidermal nevi are congenital noninflammatory cutaneous hamartomas composed of keratinocytes each lesion comprising the progeny of a single mutant keratinocyte.
A 12-year-old girl from rural area presented to our department with the history of multiple asymptomatic skin lesions distributed over right side of the chest shoulder neck and upper back since birth. There was no history of delayed developmental milestones or seizure disorders no consanguinity in parents no other children affected in family. On systemic examination no abnormality was revealed. Following investigations of complete blood counts ESR and urine routine examination were within normal limits.
The clinical examination revealed multiple well-defined irregular brownish-black plaques with warty surface distributed between right C2-C4 areas and in segmental distribution but not crossing the midline (Figures 1 and 2). Hair nail and mucous membranes were normal.
A provisional diagnosis of verrucous epidermal nevus was made and a punch biopsy was done. Histopathology showed hyperkeratosis with irregular papillomatosis and acanthosis presence of keratin plugs within the epidermis and slight increase in basal melanin pigment. Dermis showed sebaceous glands proliferating vascular channels and very sparse lymphatic infiltrates few eccrine glands with sparse melanin incontinence (Figures 3 and 4).
On the basis of clinical and histological evidence a diagnosis of right sided zosteriform verrucous epidermal naevus of C2- C4 was made.
Verrucous epidermal nevus is a common type of keratinocyte hamartoma present at birth or occurring later in life. They affect about one in every thousand live births. It is seen at any site but is less common on the head and neck. Epidermal verrucous nevus is seen as vertical linear or s-shaped lesion and does not normally cross midline.1
Verrucous epidermal nevus follows the lines of Blaschko suggesting that they represent postzygotic mutations. In general larger lesions more widespread lesions and lesions of the head and neck are more likely to have associated internal complications. The combination of an epidermal nevus and an associated internal problem is called epidermal nevus syndrome".12
Epidermal nevi most commonly present as a single linear lesion but sometimes multiple unilateral or bilateral linear plaques are seen. Most lesions consist of well-circumscribed hyperpigmented papillomatous papules or plaques that are usually asymptomatic. Rarely epidermal nevi are hypopigmented. Once developed the nevi may thicken and become more verrucous especially over joints and in flexural areas such as the neck. Very rarely seen over shaft of penis3 may be associated with features of woolly hair nevus4 eyelid abnormalities causing trichiasis5 and may be seen as linear epidermal nevus over palm.6
Histopathology of epidermal nevus shows epidermal hyperplasia hyperkeratosis acanthosis papillomatosis and variable parakeratosis.
In our case a girl aged 12 years presented with multiple well-defined irregular brownish- black plaques with warty surface distributed between right C2-C4 areas and in segmental distribution. Histology showed hyperkeratosis with irregular papillomatosis and acanthosis keratin plugs within the epidermis and slight increase in basal melanin pigment.
Based on clinical and histopathological examination diagnosis of zosteriform verrucous epidermal nevus was made rare presentation over neck.
Treatment involves topical therapy such as corticosteroids retinoic acid tars anthralin 5- fluorouracil and podophyllin have all been used but they are of limited benefit. Surgical modalities include excision with full thickness graft7 cryotherapy8 carbon dioxide laser vaporization9 and erbium:YAG laser therapy.10
Verrucous epidermal nevus is due to overgrowth of keratinocytes (horny skin cells). Lesions are present most commonly during birth or in first year of birth or early childhood. Our patient presented with multiple verrucous epidermal nevi seen in a zosteriform pattern with involvement of right C2-C4 dermatomes of neck which is an uncommon presentation. Acknowledgement
We gratefully acknowledge the help of Principal Prof. Pesimsr Kuppam Dr. Shiva Kumar professor and head of department of DVL Pesimsr Kuppam and Dr. Rama Swamy Professor Department of Pathology Pesimsr Kuppam.
1. Thomas EA Singla M Shekhawat SS.Zosteriform verrucous epidermal nevus. Indian J Dermatol. 2005;50:168-9.
2. Losee JE Serletti JM Pennino RP. Epidermal nevus syndrome: a review and case report. Ann Plast Surg. 1999;43:211-4.
3. Narang T Kanwar AJ. Verrucous epidermal naevus on penis. Indian J Dermatol. 2006;51:222.
4. Manzoor S Mir NA Qayoom S. Verrucous epidermal naevus associated with woolly hair naevus. Indian J Dermatol Venereol Leprol. 2003;69:37-8.
5. Loff HJ Bardenstein DS Levine MR. Systematized epidermal nevi: case report and review of clinical manifestations. Ophthal Plast Reconstr Surg. 1994;10:262-6.
6. Vossen KM Timothy NH Manders EK. An unusual presentation of a linear epidermal nevus. J Hand Surg Am. 2001;26:291-5.
7. Behera B Devi B Nayak BB et al. Giant inflammatory linear verrucous epidermal nevus: successfully treated with full thickness excision and skin grafting. Indian J Dermatol. 2013;58:461-3.
8. Panagiotopoulos A Chasapi V Nikolaou V et al. Assessment of Cryotherapy for the treatment of verrucous epidermal naevi. Acta Derm Venereol. 2009;89:292-4.
9. Paradela S Del Pozo J Fernandez-Jorge B Lozano J. Epidermal nevi treated by carbon dioxide laser vaporization: a series of 25 patients. J Dermatolog Treat. 2007;18:169-74.10. Park JH Hwang ES Kim SN Kye YC. Er:YAG laser treatment of verrucous epidermal nevi. Dermatol Surg. 2004;30:378-81.
Neutral lipid storage disease-a case report
By: Ghazala Butt Asia Bano Sabrina Suhail Pal Khawar Khurshid Faria Asad and Zahida Rani
_: Abstract Neutral lipid storage disease is a rare autosomal recessive disorder characterized by non-bullous ichthyosiform erythroderma liver steatosis hepatosplenomegaly cataracts ataxia bilateral sensorineural hearing loss skeletal and cardiomyopathy growth and mental retardation. We report a case of neutral lipid storage disease in a 14 months old child.
Neutral lipid storage disease non-bullous ichthyosiform erythroderma Jordan's anomaly.
Neutral lipid storage disease (NLSD) is an autosomal recessive disorder in which there are lipid droplets in almost all tissues.1 It is caused by mutations in Adipose Triglyceride Lipase (ATGL) / PNPLA2 or Comparative Gene Identification (CG1-58) /ABHD5.2
CG1-58 mutations are always associated with ichthyosis.3 Neutral lipid storage disease was first described by Rosenszajn et al.4 in 1966 in two siblings who developed ichthyosiform erythroderma as the only abnormality. A total of 43 cases have been reported world wide till October 2010. We report a case of 14 months old child with congenital ichthyosis organomegaly and lipid vacuoles in leukocytes.
A 14-month-old male presented to us with erythroderma. Baby was born prematurely at 34 weeks of gestation. His skin was normal at birth. He developed jaundice at the age of 4 days for which he received phototherapy. In the following week the boy developed erythema and scaling which progressively led to erythroderma within days. The skin condition was slightly improved with emollients. When the baby was 10 months of age he presented to pediatric emergency with watery diarrhea and abdominal distention. Investigations revealed hepatomegaly for which a liver biopsy was performed which showed non-alcoholic steatohepatitis. When the diarrhea settled they referred the patient to skin department for the management of erythroderma. Significant in history was that the parents were first cousins . The child's milestone and intellect were normal.
Cutaneous examination revealed generalized erythema with scaling. On the trunk the scales were small and yellowish white in colour while on the limbs they were large polygonal and dirty yellow in colour. Ectropion was present. Nails and teeth were normal. The only finding on systemic examination was hepatomegaly.
Peripheral blood film showed fat vacuolization in neutrophils and eosinophils with positive Sudan Black staining. Liver function tests were deranged with bilirubin 2.9 mg/dl aminotransferase 127 U/L alanine transferase 98 U/L and alkaline phosphatase was 421 U/L. urine complete renal function tests muscle enzymes (Aldolase CPK LDH) X-ray chest prothrombin time thromboplastin time and bone marrow tests were within normal limit. On abdominal ultrasound focal fatty vacuolization Skin histopathology was unremarkable except epidermal basal layer vacuolization.
Neutral lipid storage disease (Chanarin-Dorfman syndrome) is a rare autosomal recessive lipid storage disease which is characterized by the deposition of triacylglycerol in multiple tissues including liver skin muscle central nervous system and blood leukocytes.5 The majority of cases reported to date are from the Middle East.6
Clinical features are variable and include non- bullous ichthyosiform erythroderma liver steatosis hepatosplenomegaly cataracts ataxia bilateral sensorineural hearing loss skeletal and cardiomyopathy growth and mental retardation.5
One of the diagnostic features is the presence of lipid containing vacuoles in leukocytes which was originally discovered by Jordan et al.7 (Jordan's anomaly). Many reports stress the importance of visualizing leukocytes in every case of ichthyosis. The earliest report was in 1953 by Jordan.7 Reports by Rozenszajn et al.4 in 1966 and Elias and Williams8 in 1985 attracted attention to this syndrome. Elevation of muscle and hepatic enzymes along with lipid droplets in muscle and liver biopsy are also seen.9
The extent to which the vacuoles are seen in leukocytes and the degree to which deposition of fatty tissue occurs do not correlate with the severity of clinical presentation. In our case patient showed steatohepatitis and grade III renal parenchymal disease which is a rare finding in patients of neutral lipid storage disease.
Chanarin-Dorfman syndrome mostly present as congenital ichthyosiform erythroderma but can also manifest as lamellar ichthyosis and erythrokeratoderma variabilis like picture.10 Our patient presented with nonbullous ichthyosiform erythroderma.
The liver is affected in 64% of cases and mostly manifests as hepatomegaly with most common pathology being steatohepatitiswhich was present in our patient.
Emollients and dietary modification remain the mainstay of treatment. Reduced long-chain fatty acids increased medium-chain fatty acids low protein and high carbohydrate diet are beneficial.
Ursodeoxycholic and vitamin E are given in steatohepatitis because of their cytoprotective and antioxidant effects. Our patient is using emollients antioxidant along with dietary modification and is being followed up regularly.
1.Igal RA Coleman RA. Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. J Lipid Res. 1998;39:31-43.
2. Schweiger M Lass A Zimmermann R et al. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI- 58/ABHD5. Am J Physiol Endocrinol Metab. 2009;29:289-96.
3. Akiyama M Sawamura D Nomura Y et al. Truncation of CG1-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol. 2003;121:1029-34.
4. Rozenszajn L Klajman A Yaffe D Efrati P. Jordan's anomaly in white blood cells: Report of case. Blood. 1966; 28: 258-265.
5. Selimoglu MA Esrefoglu M Gul M et al. Chanarin Dorfman Syndrome: Clinical features of a rare lipid metabolism disorder. Pediatr Dermatol. 2009;26:40-3.
6. Pena-Penabad C Almagro M Maritinez W et al. Dorfman-Chanarin Syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol. 2001;144:445-8.
7. Jordans GH. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculurum progressive. Acta Med Scand. 1953;146:419-26.
8. Elias PM Williams ML. Neutral lipid storage disease with ichthyosis: defective lamellar body contents and intracellular dispersion. Arch Dermatol. 1985;121:1000-8.
9. Chanarin I Patel A Slavin G et al. Neutral lipid storage disease: A new disorder of lipid metabolism. Br Med J 1975;1:553-5.
10. Pujol RM Gilaberte M Toll A et al. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman Syndrome. Br J Dermatol. 2005;153:838-41.
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|Author:||Inakanti, Yugandar; Kumar, Shiva; Nagaraja, Akshaya; Peddireddy, Srilakshmi; Abhiram; Meghana, G.B.;|
|Publication:||Journal of Pakistan Association of Dermatologists|
|Date:||Jun 30, 2014|
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