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8 Grezard P, Balme B, Ceruse P et al. Ulcerated cutaneous epithelioid hemangioendothelioma. Eur J Dermatol 1999; 9: 487–90. 9 Roh HS, Kim YS, Suhr KB et al. A case of childhood epithelioid hemangioendothelioma. J Am Acad Dermatol 2000; 42: 897–9.
Phakomatosis pigmentovascularis type IIb with a patent umbilical vein and inferior vena cava hypoplasia SIR, Phakomatosis pigmentovascularis (PPV) was first described by Ota et al. in 1947,1 and is classified into four types. Type I consists of the association of naevus flammeus with naevus pigmentosus verrucosus; type II is characterized by the coexistence of naevus flammeus and dermal melanocytosis; type III is the combination of naevus flammeus with naevus spilus; and type IV is defined by the association of naevus flammeus, naevus spilus and dermal melanocytosis. Each type is further subdivided: (a) when only cutaneous involvement is present and (b) when cutaneous and systemic involvement is found. Naevus anaemicus can be an additional feature in types II, III and IV. Type II is the most common variant of PPV;2 we present a case of PPV type IIb with a patent umbilical vein and inferior vena cava (IVC) hypoplasia. To the best of our knowledge, this condition has never been described before. A 20-year-old man had naevus of Ota, aberrant Mongolian spots, bilateral temporal alopecia, tooth deformity and left ocular atrophy (Fig. 1). He had been born by normal delivery at full term and his siblings were unaffected. His parents were not consanguineous, but his mother had schizophrenia. In addition, an extensive port-wine stain on the left side of the face and on the trunk with pigmentary mosacism was noted. The latter was manifested as an incomplete checkerboard pattern on the anterior trunk and a phylloid pattern on the back (Fig. 2). No naevus anaemicus was found. The patient had Sturge–Weber syndrome
and had been taking anticonvulsant medication since infancy. One episode of seizure resulted in right hemiplegia at age 11 years. Computed tomography of the brain demonstrated left cerebral calcification and atrophy. He had pelvic obliquity and compensatory scoliosis. X-ray of the lower limbs showed that his legs were of unequal length. Several angiomas, vascular malformations and hypoplasia of the deep venous system over the right leg were found on angiography of the bilateral lower limbs, and Klippel– Trenaunay syndrome was diagnosed. In addition, a few engorged veins crossing the abdomen, with the largest extending from the right pubic area to the submammary region, were noted (Fig. 2a). Against the hepatofugal venous flow on portal hypertension, the blood flow of the varices was hepatopetal on abdominal colour Doppler sonography. In addition, upper gastroenteric endoscopy showed no oesophageal varices. Ultrasonography and computed tomography of the abdomen showed a patent umbilical vein and hypoplasia of the infrarenal segment of the IVC. Inferior venacavography showed prominent collaterals that drained into umbilical and varicose veins on the anterior abdominal wall, and retrograde filling of the left portal vein was via the umbilical vein. All these imaging findings suggested hypoplasia of the infrarenal segment of the IVC. The pathogenesis of PPV remains unknown. Tadini et al. postulated that PPV arises as a twin-spot phenomenon,3 namely, the occurrence of two different mutant patches involving two adjacent or corresponding areas of the body. One patient affected with PPV was heterozygous for two different recessive mutations localized on the same chromosome. At an early stage of embryogenesis, a postzygotic recombination would result in two homozygous daughter cells representing two types of naevi. These different cell lines derived from a common event might migrate to different body segments during embryonic development, showing a mosaic
Figure 1. (a) Port-wine stain on the left side of the face, naevus of Ota (mainly on the right side of the face), left ocular atrophy, right ocular melanosis and tooth deformity. (b) Triangular alopecia on the right temporal scalp. 2003 British Association of Dermatologists, British Journal of Dermatology, 148, 823–842
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Figure 2. Extensive port-wine stain covering (a) the anterior trunk in a checkerboard pattern and (b) the back in a phylloid pattern. In addition, there are aberrant Mongolian spots on the trunk and engorged veins crossing the abdomen.
pattern. Four major patterns were proposed: along the lines of Blaschko, a checkerboard pattern, a phylloid pattern, and a patchy pattern without midline separation.4 The treatment of PPV remains conservative.5 Some patients with ulceration of the skin, like our patient, have had repeated surgical interventions over many years, with only limited and temporary relief from their symptoms. Owing to the small number of cases and the clinical diversity of PPV, the prognosis of PPV varies between individuals.6 Thus far, our patient leads a good life under anticonvulsant therapy, except for recurrent ulcers on his lower right leg. This case is unusual because of the coexistence of triangular (temporal) alopecia, Sturge–Weber syndrome, Klippel–Trenaunay syndrome, a patent umbilical vein and IVC hypoplasia. The umbilical vein usually becomes obliterated after birth to form a residual fibrous cord, the ligamentum teres, and a patent umbilical vein often indicates portal hypertension.7 Neither a patent umbilical vein nor IVC hypoplasia has previously been reported to be associated with PPV. However, the Klippel–Trenaunay syndrome can be concurrent with anomalies of the deep venous drainage of the limbs. Servelle, in his extensive experience of 786 cases of Klippel–Trenaunay syndrome and venous malformations, encountered four patients with aplasia of the lower portion of the IVC.8 Another two studies reported Klippel–Trenaunay and Sturge–Weber syndromes with IVC duplication or absence of the IVC.9,10 We strongly suspect that the abdominal varicose vein and patent umbilical vein in our patient are the haemodynamic
results of IVC hypoplasia. This case may provide new information on embryogenesis. Department of Dermatology, Chia-Yi Veterans Hospital, Chia-Yi, Taiwan *Department of Dermatology, Veterans General Hospital Kaohsiung, 386 Ta-Chung 1st Road, Kaohsiung 813, Taiwan Correspondence: Tien-Yi Tzung. E-mail:
[email protected]
P.Y.Lo T.Y.Tzung*
References 1 Ota M, Kawamura T, Ito N. Phacomatosis pigmentovascularis (Ota). Jpn J Dermatol 1947; 52: 1–3. 2 Atherton DJ. Naevi and other developmental defects. In: Textbook of Dermatology (Champion RH, Burton JL, Burns DA, Breathnach SM eds), 6th edn, Vol. 1. Oxford: Blackwell Science, 1998; 568– 76. 3 Tadini G, Restano L, Gonzalez-Perez R et al. Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol 1998; 134: 333–7. 4 Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993; 129: 1260–70. 5 Baskerville PA, Ackroyd JS, Lea Thomas ML et al. The Klippel– Trenaunay syndrome: clinical, radiological and haemodynamic features and management. Br J Surg 1985; 72: 232–6. 6 Telander RL, Kaufman BH, Gloviczki P et al. Prognosis and management of lesions of the trunk in children with Klippel– Trenaunay syndrome. J Pediatr Surg 1984; 19: 417–22.
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7 Saddekni S, Hutchinson DE, Cooperberg PL. The sonographically patent umbilical vein in portal hypertension. Radiology 1982; 145: 441–3. 8 Servelle M. Klippel and Trenaunay’s syndrome: 768 operated cases. Ann Surg 1985; 201: 365–73. 9 Stewart G, Farmer G. Sturge–Weber and Klippel–Trenaunay syndromes with absence of inferior vena cava. Arch Dis Child 1990; 65: 546–7. 10 Schofield D, Zatari GS, Gay BB. Klippel–Trenaunay and Sturge– Weber syndromes with renal hemangioma and double inferior vena cava. J Urol 1986; 136: 442–5.
Pemphigus foliaceus in an 11-year-old boy with dermatomyositis: simple coincidence or familial immunological background? SIR, Despite extensive research the exact aetiopathogenesis of autoimmune skin diseases is still unclear. However, various studies indicate a possible relationship with such factors as infections, trauma and hormones, especially in predisposed genotypes.1 Some autoimmune diseases are associated with certain HLA subtypes and recent research also suggests that some may share a common genetic background.2 For instance, 15–20% of patients with rheumatoid arthritis (RA) also suffer from autoimmune thyroid diseases,3 and there is an excess prevalence of type I diabetes mellitus in RA patients and their relatives.4 This common genetic background is also manifested in pemphigus, where autoantibodies are found in patients’ relatives. The coexistence of pemphigus with RA, systemic lupus erythematosus, pernicious anaemia, myasthenia gravis, Graves’ disease and pemphigoid has been described.5,6 In most cases pemphigus develops spontaneously but in some cases, especially in genetically susceptible individuals, the development of the disease is thought to be triggered by factors that include medications containing thiol groups (captopril, penicillamine), sulphur (piroxicam, penicillins, cephalosporins) or amide groups (enalapril, dipyrone).7,8 We describe a case with both immunogenetic predisposition and relevant drug history. An 11-year-old boy with dermatomyositis developed a second, additional autoimmune disease: pemphigus foliaceus (PF). In the literature there are no reports of the simultaneous presence of dermatomyositis and PF. PF in children is rare, but usually affects children over 10 years of age. The boy had a 2-year history of juvenile dermatomyositis (JDM), which was diagnosed on the basis of fulfilment of four of five Bohan-Peter’s criteria. Initial treatment consisted of two pulses of methylprednisolone, followed by prednisone 1Æ5 mg kg)1 daily and hydroxychloroquine 200 mg daily. Because of a poor therapeutic effect, ciclosporin 2Æ5 mg kg)1 daily was started 2 months later. As hypertension developed after 4 weeks, ciclosporin was replaced by methotrexate 7Æ5 mg weekly, and enalapril 5 mg daily was introduced. After 9 months the boy was admitted to the Department of Dermatology, Medical University of Łodz, with disseminated bullae, vesicles in an annular pattern and erosions localized on the skin of the extremities (Fig. 1a) and abdomen. His arm muscles were dystrophic (Fig. 1b). Histology revealed acan-
Figure 1. (a) Disseminated erosions and erythematous patches on the legs. (b) Lesions are seen on the legs and abdomen. Dystrophy of the arm muscles is apparent.
2003 British Association of Dermatologists, British Journal of Dermatology, 148, 823–842