Richard M. Haber

Acute Generalized Exanthematous Pustulosis Simulating Toxic Epidermal Necrolysis: A Case Report and Review of the Literature

BACKGROUND Both acute generalized exanthematous pustulosis (AGEP) and toxic epidermal necrolysis (TEN) are adverse cutaneous reactions. Despite the fact that these 2 cutaneous reactions differ in presentation, prognosis, pathologic features, and treatment, overlap can exist between them, creating a diagnostic challenge. OBSERVATIONS We describe a patient who presented with clinical features of both AGEP and TEN, and we summarize overlapping cases of AGEP-TEN that have been reported in the literature. It is essential to be able to differentiate between AGEP and TEN, as these conditions are clinically and morphologically distinct entities. They also differ considerably in their prognosis and treatment. CONCLUSIONS Because overlap exists, AGEP should be considered in the differential diagnosis of widespread blistering and erosive conditions. A greater understanding of how to differentiate AGEP and TEN can lead to quicker diagnosis as well as more effective case management and treatment.

Pachyonychia Congenita with Laryngeal Obstruction

Abstract:  Pachyonychia congenita is a rare genodermatosis that can affect the larynx. Laryngeal obstruction is very unusual with only a few cases reported. A 2‐year‐old girl presented with typical clinical features of pachyonychia congenita shortly after birth. At age 9 months, following an upper respiratory infection, she developed stridor and hoarseness and was found to have severe laryngeal obstruction, which was felt to be secondary to pachyonychia congenita based on direct laryngoscopy and laryngeal biopsy. Leukokeratosis of her larynx was treated with CO2 laser on three occasions, with improvement in her respiratory distress after each treatment. This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC‐1.

Stevens-Johnson Syndrome Without Skin Lesions (Fuchs Syndrome): A Literature Review of Adult Cases With Mycoplasma Cause

ementalzinc). Generally,clinical findingsimprovedramaticallywithindays toweeks,oftenbeforeclinicallysignificant changesoccurinserumzinclevels.Supplementationshould continue until serum zinc levels normalize, as determined by checking serum levels every 3 to 6 months. Clinicians should consider zinc deficiency and AAE if an elderly patient presents with a pruritic intertriginous eruption that is refractory to standard treatments. Dietary habits and medication history should be considered. Given the common use of medications that alter zinc metabolism and the high prevalence of poor dietary habits, AAE may be underrecognized. Correct diagnosis has therapeutic importance because patients typically respond promptly to zinc supplementation.

Idiopathic sporadic onychomadesis: case report and literature review.

1. Kreuter A, Scola N, Tigges C, Altmeyer P, Gambichler T. Clinical features and efficacy of antimalarial treatment for reticular erythematous mucinosis: a case series of 11 patients. Arch Dermatol. 2011;147(6):710-715. 2. Chang AY, Piette EW, Foering KP, Tenhave TR, Okawa J, Werth VP. Response to antimalarial agents in cutaneous lupus erythematosus: a prospective analysis. Arch Dermatol. 2011;147(11):1261-1267. 3. Lipsker D, Piette JC, Cacoub P, Godeau P, Frances C. Chloroquinequinacrine association in resistant cutaneous lupus. Dermatology. 1995;190 (3):257-258. 4. Meewes C, Henrich A, Krieg T, Hunzelmann N. Treatment of reticular erythematous mucinosis with UV-A1 radiation. Arch Dermatol. 2004;140(6): 660-662.

Juvenile-Onset Hypopigmented Mycosis Fungoides Mimicking Vitiligo

Background: Mycosis fungoides (MF) is the most common form of cutaneous T-cell lymphoma and typically affects older adults. It is estimated that less than 5% of MF cases are of juvenile onset. An uncommon hypopigmented variant of MF exists, which has been more commonly observed in dark-skinned individuals and predominantly in juvenile-onset cases. Methods: We describe an 8-year-old otherwise healthy Hispanic male who, by 6 months of age, had developed asymptomatic hypopigmented patches on the lower legs, thighs, and buttocks, which have evolved over the past 7 years. This condition had previously been misdiagnosed as vitiligo. Recent immunohistologic and molecular biology studies are consistent with MF. Results and Conclusions: Given that hypopigmented MF is an uncommon condition, it may not be clinically suspected in the pediatric population. Histopathologic, immunophenotypic, and/or molecular biologic studies are sometimes equivocal, with findings similar to inflammatory dermatoses or autoimmune vitiligo, which may initially lead to a misdiagnosis, as in this patients case.

Familial Eruptive Syringomas: Case Report and Review of the Literature

Background: Syringomas are benign neoplasms of eccrine origin. A clinical variant is eruptive syringomas, which presents as firm, smooth, yellow to pigmented papules that appear as successive crops on the neck, axillae, chest, abdomen, and/or periumbilical region. To our knowledge, there are only 10 published reports of familial eruptive syringomas. Herein we describe the eleventh report of familial eruptive syringomas, review the literature on this unusual presentation, and suggest a novel classification of familial syringomas based on our literature review. Observations: We report two cases of eruptive syringoma within a family. Eruptive syringomas were widely distributed on the trunk of a healthy 16-year-old female and her 19-year-old brother. Both the 19-year-old man and his mother also had infraorbital syringomas. Conclusion: Familial eruptive syringomas are a rare clinical entity that is likely autosomal dominantly inherited. Future reports of this unusual condition may provide further insight into the etiology of familial syringomas, and genetic analysis of cases may enable the causative gene mutation to be determined.

Transverse Nasal Crease and Transverse Nasal Milia: Clinical Variants of the Same Entity

BACKGROUND Transverse nasal crease is an uncommonly reported entity. It likely represents an embryologic fault line. Transverse nasal milia have also been reported in the same location, both as an isolated finding and in a transverse nasal crease. This observation suggests they are variants of the same entity. OBSERVATIONS Two cases, one of transverse nasal crease with milia and one of transverse nasal milia in the absence of a crease, are reported. A review of the literature on these rarely reported conditions was performed. CONCLUSIONS It is important for clinicians to be aware of transverse nasal creases, since they may be encountered in a dermatologic practice. Transverse nasal creases, milia in transverse nasal creases, transverse nasal milia, and transverse nasal comedones in the absence of a transverse nasal crease are likely variants of the same entity. They most probably occur because the triangular cartilage and the alar cartilage attach in a linear fashion at the junction of the middle and lower third of the nose. This produces a potential embryonic fault line in which retention cysts presenting as milia and comedones can occur. These clinical presentations merit attention because they are likely much more common than reported.

Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X‐linked dominant congenital disorder involving defects of mesodermal‐ and ectodermal‐derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold–Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.

Agminated blue nevi in a patient with dermatomyositis.

deficits in the median nerve area. The entrapment neuropathy can be primary, as in the case of our patients, or secondary to other causes such as connective tissue disease, in particular scleroderma. Skin lesions such as finger erythema, nail dystrophy, and blisters have been described in patients with severe damage to the motor, sensory, and autonomic fibers of the median nerve. The pathogenetic hypothesis is that fingertip necrosis is caused by a transitory alteration of autonomic innervation associated with impaired arterial vascularization as a result of a lesion in the vasa nervorum. A diminished pain threshold because of the sensory deficit may also contribute by allowing increased exposure to physical or thermal microtrauma. A rare ulcerative, mutilating variant of CTS associated with sclerodactyly and acro-osteolysis has been described. This radiographic sign was absent in our patients. These 2 cases highlight an advanced stage of CTS as a cause of fingertip necrosis.

Exacerbation of Darier Disease by Lithium Carbonate

Introduction: Darier disease (DD) and Hailey-Hailey disease (HHD) are rare autosomal dominantly inherited genodermatoses with mutations in the respective genes, ATP2A2 and ATP2C1, that encode the respective calcium adenosine triphosphatases SERCA2 and PMRI/SPCA1. Lithium is an effective therapy used in psychiatry as prophylaxis against recurrent mania and to treat acute schizoaffective, impulsive, and alcoholic disorders. Methods: We discuss a patient with DD who claimed that her skin condition had flared after she was administered lithium therapy for bipolar disorder. Discussion and Conclusions: DD may flare after lithium therapy, an association that has rarely been reported. Not uncommonly, DD has been observed to coexist with affective disorders, with reports of the bipolar disorder susceptibility locus cosegregating with a separate DD gene. A mechanism by which lithium worsens disease has recently been studied in rats. DDs coexistence with affective disorders and the mechanisms by which lithium may cause exacerbation of DD and HHD are reviewed.