|Year : 1995 | Volume
| Issue : 3 | Page : 152-154
S Criton, PK Majeed Abdul, PU Asokan
Source of Support: None, Conflict of Interest: None
Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.
Keywords: Proteus syndrome, Clitoromegaly
|How to cite this article:|
Criton S, Abdul PM, Asokan P U. Proteus syndrome. Indian J Dermatol Venereol Leprol 1995;61:152-4
| Introduction|| |
Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. The typical clinical features include progressive and asymmetric megalodactyly, hemihypertrophy, subcutaneous masses, localised cerebroid thickening of the palms and soles and linear skin lesions. Earlier a case of Proteus syndrome was reported from India in an adult male. We describe a young girl who was brought for progressive asymmetric enlargement of the lower limbs since birth.
| Case Report|| |
An 11-year-old girl was born following a normal pregnancy and delivery to non-consanguineous parents. Her milestones of development were normal except for delay in walking; walking started when she was 2 years old. Her parents noticed asymmetry of both feet at birth and later a progressive asymmetric overgrowth of the lower limbs and the toes. Her school performance was fair. The parents and two younger sibs were normal.
She was thin built, 130 cm in height and 23 kg in weight. Asymmetry of the lower limbs was obvious, the right one being longer and of increased girth. Megalodactyly was present in the right hand and both feet [Figure - 1]. Scoliosis of the dorsal spine, varicose veins in both lower limbs and a single engorged vein on the dorsum of the right hand were other physical signs noticed. She also had multiple subcutaneous swellings about 1 cm in size and soft to firm in consistency on the lower limbs. The external genitalia were prepubertal but the clitoris was enlarged.
The following were the dermatological features:
- 1. A hypopigmented macule with irregular borders, 5 x 7 mm in size below the umbilicus.
- 2. A large naevus flammeus involving the lateral sides of both thighs, legs and dorsum of the left foot. A similar lesion was seen involving the lateral three fingers of the left hand.
- 3. A linear epidermal verrucous naevus in the midline, extending from below the umbilicus to the pubic region.
- 4. Angiokeratomas over the lateral aspect of the middle third of the left thigh.
The absence of exostoses, eye defects, central nervous system defects and cerebriform swellings on the palms and soles was noteworthy.
Investigations such as haemogram, urinalysis, biochemical parameters for renal function, and ultrasonography of the abdomen and pelvis were all normal.
Skiagram of the dorsal spine showed scoliosis. The bones of the second and third toes were elongated and the tips of the phalanges were eroded.
| Discussion|| |
Proteus syndrome is a newly described congenital disorder. These patients demonstrate tremendous morphologic variability. Samlaska et al attempted to define the major and minor criteria for the diagnosis of this syndrome. According to them, hemihypertrophy, macrodactyly, subcutaneous tumours, plantar and/or palmar masses, exostoses, epidermal naevi and scoliosis are the major features of Proteus syndrome. Four or five of the above features with many other clinical associations such as accelerated growth rate,varicosities, capillary angiomas, etc, make the diagnosis certain.
In the present patient, five major features and many other cutaneous associations were present. However,there was no cerebroid appearance of the palms and soles in our patient. This finding was also absent in the patient described by George and Jacob. Pelvic lipomas have been described in patients with Proteus syndrome. Our patient had multiple subcutaneous swellings which were clinically suggestive of lipomas. Even though penile hypertrophy has been described in one case earlier, clitoromegaly is described here for the first time.
The cause of Proteus syndrome is unknown. There is no sex predilection. Routine cytogenetic studies have shown normal chromosomes. Happle suggested that the underlying defect might be a somatic mutation, lethal in a non-mosaic state. Such a mutation could affect receptors, with subsequent alteration in the local production and regulation of tissue growth factors. This hypothesis explains many aspects of the disease and the tremendous variability seen from patient to patient.
| References|| |
|1.||Nazzaro V, Cambiaghi S, Montagnani A, et al Proteus syndrome. J Am Acad Dermato 1991;25:377-83. [PUBMED] |
|2.||George R, Jacob M. Proteus syndrome. Ind J Dermatol Venereol Leprol 1993;59:213-5. |
|3.||Samlaska CP, Levi SW, James DW, et al. Proteus syndrome. Arch Dermatol 1989;125:1190-4. |
|4.||Costa T, Fitch N, Azous EM. Proteus syndrome; Report of two cases with pelvic lipomatosis. Pediatrics 1985;76:984-9. |
|5.||Happle R. Cutaneous manifestations of lethal genes. Genet 1986;72:280. [PUBMED] |
|6.||Clark R D, Donnai D, Rogers J, et al. Proteus syndrome: an expanding phenotype. Am J Med Genet 1987;27:99-117. |
[Figure - 1], [Figure - 2]
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