Wednesday, March 27, 2013

Gluteal Abscess

Abstract: 94 yo man with gluteal abscess.

HPI:  The patient is a 94 yo man in fair general health.  Hi has chronic pruritus of "Willan's Itch" and has been on prednisone 10 mg daily for a year to control his intractable pruritus.  He sits for hours per day because of a tendon tear around the left knee that severely restricts ambulation.  His mental status is fair.  He has no marked dementia, but has slowed down in the past couple of years.  Other than orthopedic problems he has no serious medical disorders.

O/E:  Red, tender mass in the left buttock.


Lab:  Culture taken from crusted area grew moderate Saph aureus sensitive to everything except penicillin

Procedure:  The patient was sent to a surgeon who did and I and D and packed the area.  He reported ~ 40 cc of pus admixed with blood.

At present the patient is home, fairly comfortable, on cephalexin 500 mg tid.  Packing is changed daily.

Diagnosis:  Gluteal abscess.

Questions:  This is a somewhat frail 94 yo man.  He does not want to enter hospital.  I am concerned that there may be loculations that have not been probed.  Considering the organism, is cephalexin enough? 

Saturday, March 16, 2013

Whose Nose Needs Mohs?

Abstract:  77 yo woman with 5 mo history of pigmented macule on nose

HPI:  77 yo woman in fair general health with 5 mo history of evolving lesion on bridge of nose.

O/E: 1.5 x1.0 macule with slight play of color bridge nose.

Clinical photos: Arrows show original biopsy sites.

1) 2 x 3 mm punch bx taken from areas indicated by arrows.  "Mild to moderate atypical melanaocytic hyperplasia with focal pagetoid spread.
2) Incisional biopsy of most (not all) of residual lesion. "Lentiginous melanocytic hyperplasia best interpreted as 'melanoma in situ.' In the appropriate clinical setting complete reexcision is recommended for further evaluation and management."

(Biopsies were signed out by two different dermatopathologists at the same facility.)

Photomicrographs courtesy of Dr. Deon Wolpowitz, Boston University, Department of Skin Pathology.

Mart 1 Positive 

Diagnosis:  Atypical Melanocytic Hyperplasia vs. Melanoma in situ

Discussion: Clearly, a more complete excision would be problematic.  This lesion would appear to have minimal potential to metastasize and the plan here would be either wait and watch or imiquimod.  What would your approach be? 
What is highlighted here is the subtle change of diagnosis from atypical melanocytic hyperplasia to M.I.S.  Semantics certainly makes a difference.

Questions: Would you refer to a Mohs surgeon or  treat with imiquimod?  What is the risk for invasion in such a lesion?

About MART 1 Stain: MART-1 has nothing to do with prognosis or treatment.  It is basically a staining tool to identify melanoma cells in a tissue sample.  Having MART-1 positive means melanocytes showed up on the sample and the pathology can confirm melanoma.  MART-1 is specific to melanoma so when cells stain positive, there are melanocytes there.  It also shows normal melanocytes, but if it stains positive in a tissue sample that shouldn't contain melanocytes (tumors), then you have a key to diagnosis

1.  An Bras Dermatol. 2011 Jul-Aug;86(4):792-4.
Lentigo maligna treated with topical imiquimod: dermatoscopy usefulness in clinical monitoring.
[Article in English, Portuguese]  Free Open Access
Costa MC, Abraham LS, Barcaui C.
Instituto de Dermatologia Prof. Rubem David Azulay, Santa Casa da Misericórdia do Rio de Janeiro, Brasil.
Abstract: Dermoscopy has its usefulness well established in the diagnostic evaluation of melanocytic lesions. Recently, however, it has also shown to be an important tool in monitoring therapeutic response to various dermatoses. We report the case of an elderly patient diagnosed with lentigo maligna of difficult surgical management, which we have chosen to treat with topical imiquimod. The dermoscopic monitoring of this alternative therapy has shown to be of great usefulness.

2.  Case Rep Dermatol. 2009 Oct 31;1(1):78-81.
Topical Imiquimod Treatment of Lentigo Maligna.
Ventura F, Rocha J, Fernandes JC, Pardal F, Brito C.
Source: Department of Dermatology and Venereology, Hospital de São Marcos, Braga, Portugal. Free Open Access
Abstract: Lentigo maligna (LM) is the in situ phase of lentigo maligna melanoma, which may progress to invasive melanoma if left untreated. It mainly occurs on sun-exposed areas of elderly patients. The lesions can be large and conventional surgery can be difficult, particularly on the face. Recent reports indicate that topical imiquimod 5% cream is effective in the treatment of LM. It may be an alternative when surgery or other classical treatments are not possible in elderly patients. We describe an 80-year-old Caucasian woman with a 10-year history of a histologically verified extensive LM of the face. She was treated with imiquimod 5% cream once daily. After four months it showed complete clinical response. One year after the treatment the patient was still free from shown to be of great usefulness.

--> Clin Med Oncol. 2008; 2: 551–554.
Observational Study of Topical Imiquimod Immunotherapy in the Treatment of Difficult Lentigo Maligna
E.E. Craythorne and C.M. Lawrence  Free Open Access.

Thursday, March 07, 2013

Scald-like Eruption in a Newborn

Dr. Yogesh Jain from Ganiyari, Bilaspur  in Chhattisgarh, central India requests your help with this infant.

The first two pics are of a 22 day old newborn girl who started developing erythematous lesions on the face, on arms and the abdomen at the age of 15 days and now has it for 7 days. After initial erythema, it darkens and becomes scald-like, as seen below. No blisters . No nail involvement . No feeding problem. No problem with hair. Sometimes these lesions get a little bit of pus, but not at this moment. The parents are non-consanguineous.

Her elder sib, a girl, also developed this at the age of 15 days, mainly on the face. Now at 7 years, she has hyperpigmented lesions on the face. Otherwise normal.

A first cousin also had similar lesions.
What is this?

Clinical Images of proband, her sister and cousin.

Heals without ectropion

Diagnosis:  This may be a unique variant of Self-Healing Collodion Baby with limited expression.

Discussion:  It's hard to explain this as anything other than an autosomal recessive disorder since none of the parents are affected (need to confirm by history).  Reference 3. is available as a full text.  I would imagine that cool compresses with clean water and an emollient with a petrolatum base for a few weeks may speed and aid healing.  We will try to get some opinions from pediatric dermatologists.

1. Autosomal Recessive Congenital Ichthyosis.
[Article in English, Spanish]
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.
Actas Dermosifiliogr. 2012 Jul 13. [Epub ahead of print]
Departamento de Dermatología, Complejo Hospitalario Universitario, Facultad de Medicina, Santiago de Compostela, España.
Abstract: The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathing suit ichthyosis. The combined prevalence of LI and CIE has been estimated at 1 case per 138 000 to 300 000 population. In some countries or regions, such as Norway and the coast of Galicia, the prevalence may be higher due to founder effects. ARCI is genetically highly heterogeneous and has been associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and ABCA12. In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects.

2. Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.Mazereeuw-Hautier J, Aufenvenne K, Deraison C, Ahvazi B, Oji V, Traupe H, Hovnanian A.  Br J Dermatol. 2009 Aug;161(2):456-63.
Department of Dermatology, CHU Purpan, Toulouse 31024, France.
Abstract:  A minority of collodion babies, called 'self-healing collodion babies', heal spontaneously. We describe a novel clinical phenotype of acral self-healing collodion baby caused by a new TGM1 mutation. The proband, born to healthy parents, presented at birth as a collodion baby strictly localized to the extremities. The skin condition returned to normal at the age of 3 weeks. The older sister was born as a generalized collodion baby; the condition then developed into lamellar ichthyosis. Molecular analysis of TGM1 revealed three novel mutations in the family. The proband was compound heterozygous for the p.Val359Met and p.Arg396His mutations, whereas the older sister was compound heterozygous for p.Arg396His and a deletion mutation c.1922_1926+2delGGCCTGT. Structural modelling of the p.Val359Met mutation suggested a minor disruption of the protein structure, whereas a modification of protein-protein interaction was predicted for p.Arg396His. These predictions corroborated the analysis of recombinant transglutaminase (TGase)-1 proteins carrying the p.Val359Met and p.Arg396His mutations. Both showed decreased levels of protein expression: p.Val359Met displayed residual activity (12.8%), while p.Arg396His caused a dramatic loss of activity (3.3%). These observations demonstrate for the first time that TGM1 mutations can be associated with acral self-healing collodion baby, and expand the clinical spectrum of TGase-1 deficiency.

2. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. Full Text
 J Invest Dermatol. 2010 Feb;130(2):438-43. Vahlquist A, et. al.
Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Abstract: Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis upon shedding. However, some babies show a nearly normal underlying skin after several weeks, a phenotype called "self-healing collodion baby" (SHCB). Mutations in two genes, TGM1 and ALOX12B, have previously been implicated in the etiology of SHCB, but the full genotypic spectrum remains to be determined. DNA sequencing in 11 Swedish and 4 Danish SHCB patients showed ALOX12B mutations in eight cases, ALOXE3 mutations in three cases, and TGM1 mutations in one case. In three patients, we could not find mutations in any of the known ARCI genes. In all cases, a spontaneous shedding of the collodion membrane occurred 2-4 weeks after birth. When re-examined at 2-37 years of age, the patients showed skin xerosis, a mild or focal scaling, palmar hyperlinearity with keratoderma, and a frequent appearance of red cheeks and anhidrosis. Thus, we propose replacing SHCB with the term "self-improving collodion ichthyosis" (SICI). In conclusion, ALOX12B mutations are the leading cause of SICI in Scandinavia, followed by ALOXE3 mutations, which have not been previously associated with this variant of ARCI.