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Granulomatous Rosacea in Cornelia De Lange Syndrome

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Granulomatous Rosacea in Cornelia De Lange Syndrome Letters to the Editor Schiff staining of the nail clippings in the diagnosis GGranulomatousranulomatous rosacearosacea inin of onychomycosis”.[1] We agree with some of the views expressed, however others may need reconsideration. CCorneliaornelia dede LangeLange syndromesyndrome It is true that mycological culture has a higher Sir, specificity, but it has lower sensitivity as compared to Cornelia de Lange syndrome (CDLS) is a multisystem histopathology with periodic acid-Schiff staining (HP/ disorder characterized by a typical facial appearance, PAS).[1,2] HP/PAS is relatively quick, and a specificity prenatal and postnatal growth retardation, feeding of 72% cannot be overlooked.[3] In most cases, difficulties, psychomotor delay, and behavioral morphological aspect of the hyphae and/or spores problems. Facial features include cutis marmorata and can suggest the group to which pathogens belong.[3] bluish discolouration of the face, synophrys (confluent In personal view of the authors, cost of HP/PAS is not eyebrows) along with hypertrichosis. The hirsutism so high considering all these informations obtained includes long and curly eyelashes and confluent after doing this test, and when compared to the cost of eyebrows. Most patients are born with a noticeable onychomycosis therapy. generalized hypertrichosis, especially involving the nape of the neck, the lateral aspects of the elbows, HP/PAS is not an alternate test to mycologic culture. It and the lower sacral area.[1] Skeletal abnormities and a simple and highly sensitive screening test and can be an abnormal cry are also manifestations of CDLS. performed as a complementary to mycological culture Dermatological manifestations of CDLS have been and potassium hydroxide (KOH) mount to close the reviewed,[1–4] but rosacea has not been reported. diagnostic gap.[1] PAS staining can be performed Most of the dermatological manifestations appear at routinely as a standard of practice in the lab diagnosis birth or present shortly thereafter.[1] Keratosis pilaris of onychomycosis, however, histochemical staining atrophicans faciei (ulerythema ophryogenes) has using Gomori methenamine silver may have higher been reported in CDLS.[5] We report a patient with sensitivity.[4] All these factors suggest that HP/PAS granulomatous rosacea and CDLS; this association has staining of nail clips should be considered as a valuable not previously been reported. test in the diagnosis of onychomycosis. A 16-year-old girl with CDLS presented with a 6-month MManjunathanjunath M.M. SShenoy,henoy, SS.. TTeerthanatheerthanath1, history of a facial rash; this rash was sore, was worsened VVimalimal KK.. KKarnakerarnaker2, BB.. SS.. GGirishairisha1, by sunlight, and was distributed in a ‘V’ shape over KKrishnarishna PPrasadrasad2, JJeromeerome PPintointo her neck and upper chest. It extended to involve the Departments of Dermatology, 1Pathology, and 2Microbiology, K.S. cheeks, lips, and chin. She had been born at 42 weeks Hegde Medical Academy, Mangalore, Karnataka, India weighing 2.24 kg to healthy, nonconsanguineous parents. The parents noticed that since birth she had AAddressddress forfor ccorrespondence:orrespondence: Dr. Manjunath Shenoy M., difficulty in feeding, refusing bottle feeding and failing Department of Skin and V.D., Justice K.S. Hegde Charitable Hospital, Deralakatte, Mangalore - 574 160 Karnataka, India. to grow normally. She was started on tube feeding at 4 E-mail: [email protected] weeks, which continued for three years. There was a delay in maturation of her teeth. She had been taking RREFERENCESEFERENCES omeprazole 20 mg, twice daily, for gastroesophageal 1. Shenoy MM, Teerthanath S, Karnaker VK, Girisha BS, Krishna reflux. She did use some topical steroids initially, but Prasad MS, Pinto J. Comparison of potassium hydroxide mount has also been using miconazole and E45 emollient; and mycological culture with histopathologic examination none of these has been helpful. using periodic acid-Schiff staining of the nail clippings in the diagnosis of onychomycosis. Indian J Dermatol Venereol Leprol 2008;74:226-9. Examination revealed significant growth and mental 2. Weinberg JM, Koestenblatt EK, Tutrone WD, Tishler retardation. Characteristic features of CDLS present HR, Najarian L. Comparison of diagnostic methods in included hypertrichosis, slanting eyes, synophrys, the evaluation of onychomycosis. J Am Acad Dermatol 2003;49:193-7. prominent long eyelashes, depressed nasal bridge with 3. Gianni C, Morelli V, Cerri A, Greco C, Rossini P, Guiducci A, anteverted nostrils, increased nose–lip distance, thin et al. Usefulness of histological examination for the diagnosis lips turned down at the corners, and micrognathia. of onychomycosis. Dermatology 2001;202:283-8. 4. D’Hue Z, Perkins SM, Billings SD. GMS is superior to PAS for Cutaneous examination revealed some hypertrichosis diagnosis of onychomycosis. J Cutan Pathol 2008;35:745-7. of the arms and of the mid lower back. She had a 74 Indian J Dermatol Venereol Leprol | January-February 2009 | Vol 75 | Issue 1 Letters to the Editor low hairline. There were multiple confluent papular capillaries and a mixed patchy chronic interfollicular erythematous lesions on the cheeks, lips, and chin inflammatory infiltration with loosely formed distributed in a butterfly pattern [Figure 1]. No granulomas, consistent with rosacea [Figure 2]. Direct comedones were seen. There were no inflammatory immunoflourescence was negative. The diagnosis eye changes. of rosacea was made based on the clinical features, supported by histological findings consistent with The differential diagnosis included lupus granulomatous rosacea. erythematosus, rosacea, acne, ulerythema ophryogenes, granulomatous periorificial dermatitis, and lupus The parents of the patient were advised to help her avoid miliaris disseminatous faciei (acne agminata). sun exposure and extreme temperature, and to help her apply a high sun protection factor sunscreen when Blood investigations showed antinuclear antibody exposed to sunlight. Topical 0.75% metronidazole, (ANA) negative, anti-dsDNA antibodies level normal twice daily, was prescribed. Two months later, the at 9 IU/mL, normal plasma porphyrin concentration, eruptions showed some improvement. and no porphyrin detected by fluorescence, thereby, excluding all cutaneous porphyrias. A 4-mm punch We believe that our patient with CDLS had skin biopsy from the face showed some dilated dermal granulomatous rosacea that was partially controlled with metronidazole. However, all the differential diagnoses mentioned above should be considered with these clinical features. CDLS has several distinct dermatological manifestations including hirsutism and cutis marmorata, which are well described in the dermatological literature. The lack of previous reports of rosacea occurring in CDLS suggests that the association may be coincidental, there is unlikely to be any identifiable etiopathological connection. However, we hope that knowledge among dermatologists of the specific dermatological manifestations of CDLS may alert physicians to this rare condition, and allow more appropriate management when identified. Figure 1: Face of patient with characteristic Cornelia de Lange facies and the erythematous facial rash AAhmedhmed MM.. EEghlileb,ghlileb, AAndrewndrew YY.. FFinlayinlay Department of Dermatology, School of Medicine, Cardiff University, University Hospital of Wales, Heath Park, Cardiff-CF14 4XN, Wales - United_Kingdom. AAddressddress fforor ccorrespondence:orrespondence: Dr. Ahmed M. Eghlileb, Department of Dermatology, School of Medicine, Cardiff University, University Hospital of Wales, Heath Park, Cardiff-CF14 4XN, Wales - United_Kingdom. RREFERENCESEFERENCES 1. Salazar FN. Dermatological manifestations of the Cornelia de Lange syndrome. Arch Dermatol 1966;94:38-43. 2. Schuster DS, Johnson SA. Cutaneous manifestations of the Cornelia de Lange syndrome. Arch Dermatol 1966;93:702-7. 3. MacDonald DM, Greaves M. Cornelia de Lange syndrome. Br J Dermatol 1976;95:37-9. 4. Brylewski J. A typical case of Cornelia de Lange syndrome. Figure 2: Histology of biopsy from left cheek, high power showing Br Med J 1978;1 (6115) :756. dilated dermal capillaries and mixed patchy interfollicular 5. Flórez A, Fernández-Redondo V, Toribio J. Ulerythema lymphohistiocytic infi ltrations with loose granulomas. (H&E, ophryogenes in Cornelia de Lange syndrome. Pediatr Dermatol x100) 2002;19:42-5. Indian J Dermatol Venereol Leprol | January-February 2009 | Vol 75 | Issue 1 75.
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