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Year : 2013  |  Volume : 58  |  Issue : 5  |  Page : 411
LEOPARD syndrome with rare skeletal anomalies: A case report

Department of Dermatology, Dr. D.Y. Patil Medical College and Hospital, Sant Tukaram Nagar, Pimpri, Pune, India

Date of Web Publication30-Aug-2013

Correspondence Address:
Sonali Kohli
Department of Dermatology, Dr. D.Y. Patil Medical College and Hospital, Sant Tukaram Nagar, Pimpri, Pune
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.117362

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How to cite this article:
Kohli S, Sharma YK, Dash KN, Kopikar R, Chaudhari NC. LEOPARD syndrome with rare skeletal anomalies: A case report. Indian J Dermatol 2013;58:411

How to cite this URL:
Kohli S, Sharma YK, Dash KN, Kopikar R, Chaudhari NC. LEOPARD syndrome with rare skeletal anomalies: A case report. Indian J Dermatol [serial online] 2013 [cited 2021 Jun 22];58:411. Available from: https://www.e-ijd.org/text.asp?2013/58/5/411/117362


A 15-year-old female patient presented to our outpatient department with complaints, since one year of a diffuse erythematous papular eruption, primarily in the butterfly distribution over face. The lesions commenced as red macules over the cheeks, progressed to involve the entire face and were associated with pruritus and photosensitivity.

General physical examination revealed height and weight below the third percentile. There were numerous light to dark brown, 2-10 mm diameter, macules distributed all over the skin and orogenital mucosae [Figure 1]a. Multiple pustular, scaly lesions over an erythematous base were seen on the face [Figure 2]. Genital examination revealed underdeveloped labia minora and labia majora with sparse pubic hair [Figure 1]b. Breast tissue was underdeveloped (Tanner grade III). Right thumb was hypoplastic with amputated left thumb. Left lower limb showed true shortening. Cardiovascular examination revealed loud S2 along with machinery murmur in the pulmonary area.
Figure 1: (a) Hyperpigmented macules in oral mucosa. (b) Hypoplastic labia minora and sparse pubic hair

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Figure 2: Erythematous pustular lesions over the face

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Electrocardiography was normal. Fasting blood sugar level, LFT, RFT and CBC were within normal limits. ANA was negative. X-ray left hip revealed shallow left acetabular head with superior migration of femoral head confirming the clinical impression of shortened left lower limb [Figure 3]a. Radiograph of the right wrist joint showed malalligned first metacarpals and phalanges whereas that of the left wrist showed absent first phalanges consistent with the history of amputation [Figure 3]b. Left-to-right shunt along with moderate sized PDA (4 mm) was detected on echocardiography. Audiometry revealed sensorineural deafness of the left ear. Ophthalmological examination revealed bilateral blepharitis and  Meibomitis More Details.
Figure 3: (a) X-ray hip; upward migration of left acetabular head. (b) Xray wrist; malalligned first metacarpals

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Histopathological examination of facial skin [Figure 4]a biopsy showed findings consistent with rosacea, viz, mild hyperkeratosis and parakeratosis and intracorneal neutrophilic infiltration at one focus and intradermal localized small collections of epithelioid histiocytes, dilated telangiectatic capillaries and pigment incontinence. The skin biopsy from the arm [Figure 4]b revealed findings consistent with lentigo simplex. The patient's facial eruption responded to topical application of metronidazole gel twice a day and capsule doxycycline 100 mg once a day. She was counselled for PDA closure. Diagnosis of  LEOPARD syndrome More Details was established on the basis of above mentioned clinical and radiological findings.
Figure 4:

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Leopard syndrome (LS) was first described by Zeisle and Becker in 1935. Similar cases were later reported by Moynahan and Walther, but it was Gorlin, in 1969 who coined the acronym. [1] It is an autosomal dominant disorder caused by a missense mutation in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q22. Characteristic features of LS included in the acronym are: L entigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and Deafness. A diagnosis of Leopard syndrome may be established exclusively on the basis of clinical criteria.

LS is one of the so called neuro-cardio-facial-cutaneous (NCFC) syndromes, which include some overlapping disorders such as Noonan syndrome, neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Leopard syndrome itself, all caused by mutations in some components of the ras signalling pathway. [2] Patients do not usually present all the clinical features traditionally associated with the disorder. Indeed, several features are not present until late in life and do not clinically manifest until puberty. Lentiginosis the most frequently occurring feature, is observed in 100 percent of Leopard syndrome patients, followed by electrocardiographic abnormalities (80%), skeletal abnormalities (60%), hypertelorism (50%), short stature (42%), mental retardation (35%), abnormal male genitalia (29%), and deafness (27%). [3]

Musculoskeletal involvement leading to thorax anomalies like broad chest, pectus carinatum or excavatum is found in up to 75% of the newborns. [4] Mandibular prognathism, winging of the scapulae, scoliosis, joint hyper flexibility and other findings are less common.

To the best of our knowledge, this report of ours depicting the association of hypoplastic thumbs and true shortening of lower limb in a case of LS, is the first in English literature.

   References Top

1.Gorlin RJ, Anderson RC, Blaw M. Multiple lentigines syndrome. Am J Dis Child 1969;117:652-62.  Back to cited text no. 1
2.Sarkozy A, Digilio MC, Dallapiccola B. Leopard syndrome. Orphanet J Rare Dis 2008;3:13. Available from: http://www.ojrd.com/content/3/1/13 [Last accessed on 2012 Jan 23].  Back to cited text no. 2
3.Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustin S. Leopard syndrome. Dermatology Online Journal 14 2008;3:7. Available at http://dermatology-s10.cdlib.org/143/case_reports/LEOPARD/carbone.html [Last accessed on 2012 Jan 23].  Back to cited text no. 3
4.Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, et al. LEOPARD syndrome: Clinical diagnosis in the first year of life. Am J Med Genet A 2006;140:740-6.  Back to cited text no. 4


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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