sign in sign up
<<
Home , Mastocytosis

[ 60-Second Clinician]

Bullous Congenital Ichthyosiform Erythroderma and Differential Diagnosis of Widespread Blistering in a Newborn

By Mosunmola Babade, MS, Eliot Mostow, MD, MPH, Robert Brodell, MD

ullous Congenital by direct fluorescent antibody. Differential Diagnosis of Widespread Ichthyosiform Erythroderma Cultures of stool, urine, and were Erythroderma and Blistering in a Newborn B(BCIE), also termed negative for viruses or bacteria. Epidermolytic , is a Cerebrospinal fluid analysis was nor- N etherton’s syndrome rare autosomal dominant disorder mal; complete blood count revealed I cythyosiform erythroderma that can occur as a spontaneous muta- normal eosinophil and basophil C onradi’s syndrome 1,3 tion in 50 percent of cases. The counts. U lcerated toxic syndrome defect is found in the genes for ker- Skin of a vesicle was done atin 1 and Keratin 10.1,2,3 In the US, with the specimen divided for routine R ud’s syndrome the frequency is one per 200,000- histology and direct immunofluores- A cute 300,000 persons.2,3 Mortality can cence. Hematoxylin and eosin sec- result when complications such as tions revealed a normal dermis and an S taphylococcal Scalded Skin Syndrome sepsis or electrolyte imbalance are not intact basement membrane and basal H erpes simplex, neonatal type treated aggressively in the neonate layer. Epidermal cells in the granular E pidermolysis bullosa, including epidermolysis period. There is no racial or sex layer were ballooned and showed bullosa acquisita and inherited forms predilection. prominent marginal keratohyaline S econd degree burn Clinically, BCIE is a lifelong condi- granules and overlying keratotic scale tion with onset at birth or in the typical of epidermolytic hyperkerato- neonatal period. It presents with ery- sis. Direct immunofluorescence was Diagnosis of BCIE is made based thema, blistering, and/or peeling. negative. Findings on electron on clinical features, histopathological Eruptions may be generalized or local- microscopy revealed normal type IV changes, direct immunofluorescence, ized to flexural areas, the face, neck and collagen, laminin, type VII collagen electron microscopy, and a considera- backs of the hands and feet. In affected with normal amounts of keratin 5 and tion of inheritance patterns. The dif- areas, the skin is grossly thickened and 8. There was no evidence of clefts or ferential diagnosis includes hyperkeratotic, with deep ridging. vesicles at the sub-basilar layer, in the Netherton's syndrome, Icythosiform Normal skin appearing in the middle basement membrane, and in the basal erythroderma, Conradi syndrome, of a hyperkeratotic area is a valuable layer. Ulcereated toxic shock syndrome, diagnostic sign.1,2,3 Rud’s syndrome, Acute mastocytosis, Discussion Staphylococcal Scalded Skin Case Report BCIE is an incurable, disfiguring con- Syndrome, neonatal Herpes simplex, A 14-hour-old Caucasian boy was dition which has a tremendous impact , and Second born by full term normal spontaneous on family and social life. The disorder degree burn (See table, above). vaginal delivery. APGAR scores were 9 is accompanied by a distinct, pungent Routine H & E histopathology easily and 9. Physical examination revealed a body odor and is occasionally associat- identifies the epidermolytic hyperker- well-appearing, afebrile infant with ed with skeletal, neurological, and atosis typical of BCIE and distin- diffuse erythema, widespread bullae, ophthalmological abnormalities. Severe guishes most of the other conditions. and focal erosions. There was no fami- scalp involvement leading to encase- A negative direct immunofluorescence ly history of BCIE. Laboratory tests of ment, hair loss, and perleche are addi- the blister fluid were negative for HSV tional associated findings.1,3 Continued on p. 58

60 Practical Dermatology July 2006

[ Watch] [ 60-Second Clinician]

tologists will deal with LCMN in the not alarming. Emphasize the need to context of monitoring asymptomatic immediately report any neurologic Continued from p. 60 patients or referring those with new symptoms, suspicious lesions, or devel- onset of symptoms/suspicious lesions. opmental delays. As more data emerge study excludes the diagnosis of Many clinicians wonder whether they regarding risk factors and prevalence of acquired epidermolysis bullosa. should adopt more aggressive screening associated diseases, be prepared to pro- Electron microscopy differentiates methods for LCMN patients, including vide counseling specific to the patient’s BCIE from various forms of inherited use of MR imaging, in efforts to detect presentation. scarring and non-scarring epidermol- asymptomatic NCM in those who do If you have developed a rapport ysis bullosa. The direct fluorescent not report symptoms. Current opinion with the patient or family, be willing antibody test of a smear specimen among pigmented lesion experts is that to collaborate with the pigmented taken from the base and roof of a such screening is unnecessary and gener- lesion specialists to coordinate care and blister is the quickest way to identify ally unhelpful. There is no cure for help the patients/family understand, multinucleated giant cells of Herpes NCM, and available interventions pro- evaluate, and choose appropriate simplex infections. The correct diag- vide only limited benefit in certain courses of therapy, when indicated. nosis is essential for appropriate man- patients. No currently available interven- agement of this serious disorder and 1. Agero AL, Benvenuto-Andrade C, Dusza SW, Halpern AC, Marghoob tions are appropriate for asymptomatic AA. Asymptomatic neurocutaneous melanocytosis in patients with for genetic counseling. patients; discovering radiographic evi- large congenital melanocytic nevi: a study of cases from an Internet- BCIE could be a potentially life based registry. J Am Acad Dermatol. 2005 Dec;53(6):959-65 dence suggestive of NCM would only threatening condition. Therapy is 2. Hale EK, Stein J, Ben-Porat L, Panageas KS, Eichenbaum MS, generate distress for families and Marghoob AA, Osman I, Kopf AW, Polsky D. Association of melanoma symptomatic and should be adapted to patients. and neurocutaneous melanocytosis with large congenital melanocytic the age of the patient. It is primarily Dermatologists should instead naevi--results from the NYU-LCMN registry. Br J Dermatol. 2005 aimed at reducing hyperkeratosis.1,3 In Mar;152(3):512-7. emphasize education. Be prepared for the neonatal period, patients require 3. Bett BJ. Large or multiple congenital melanocytic nevi: occurrence multiple questions across a range of of neurocutaneous melanocytosis in 1008 persons. J Am Acad management in an intensive care nurs- topics. Much misunderstanding and Dermatol. 2006 May;54(5):767-77. ery to provide protective isolation and misinformation may exist, prompting 4. Foster RD, Williams ML, Barkovich AJ, Hoffman WY, Mathes SJ, to prevent dehydration, electrolyte significant anxiety for families and Frieden IJ. Giant congenital melanocytic nevi: the significance of neu- imbalance, hyperpyrexia and cutaneous rocutaneous melanosis in neurologically asymptomatic children. Plast patients. Inform patients of known Reconstr Surg. 2001 Apr 1;107(4):933-41. superinfection. risks in a manner that is realistic but When neonates are handled careful- ly with protective padding and lubri- cants used, erosions and denuded skin usually cornify rapidly.3,5 Keratolytic In Your Practice agents containing urea, salicylic acid New and alpha hydroxyl acids, as well a top- ical tretinoin and vitamin D prepara- Deficiency Report. Eczema herpeticum occurs in some patients with atopic dermatitis due to disseminated tions are effective but are sometimes infection with herpes simplex virus (HSV), but why some patients develop the disease is unclear. Perhaps defi- irritating.1,3,4,5 Benefits and side effects ciency of cathelicidin, an antimicrobial peptide, raises susceptibility to eczema herpeticum, according to results must be carefully considered, since 2,3 of a recent study in the Journal of and Clinical Immunology (2006; 117: 836- 841). Researchers long term therapy is usually required. Frequent follow-up is required to assessed cathelicidin activity in vitro and in mice, and, additional, cathelicidin levels were measured in skin immediately treat secondary bacterial biopsy specimens from 10 AD patients without HSV and from 10 with eczema herpeticum. Skin expression of infections. cathelicidin was lower in the subjects with eczema herpeticum than in their peers lacking HSV skin infection. 1. Fitzpatrick TB, Johnson RA, et al. Epidermolytic Hyperkeratosis. Color Atlas Futile PET? In detecting occult melanoma metastases, early positron emission tomography (PET) is of a lit- and Synopsis of Clinical Dermatology, 2001: 4th ed: 78-9 2. Smith SB, Smith JB, et al. Bullous Congenital Ichthyosiform Erythroderma tle help for melanoma patients with clinical stage I or II disease, a new study finds (Archives of Surgery, [eMedicine] Last Updated April 1, 2005 2006; 141: 284- 288). Researchers retrospectively studied data of 64 patients with T2 to T4 melanomas 3. Bolognia JL, Jorizzo JL, Rapini RP et al. , Erythrokeratoderma and who had undergone PET as part of their preoperative evaluation. The PET did not find any occult distant metas- related disorders. Dermatology 2003: 782-5. tases, leading researchers to conclude that PET did not change clinical management in any of the patients. 4. Wells RS, Kerr CB. Ichthyosis. Br Med J. 1996;2: 1504-6 5. Bianca S, Ingeynosi C, Bonaffini F: Harlequin Fetus. J Postgrad Med 2003; 49:81.

58 Practical Dermatology July 2006