M. Feito-Rodríguez

Prepubertal hidradenitis suppurativa successfully treated with botulinum toxin A.

Hidradenitis suppurativa (HS) is a recurrent scarring suppurative disease of the apocrine gland-bearing areas of the body that usually affects the intertriginous areas. Prepubertal HS is a rare condition; fewer than 2% of patients have onset of the disease before the age of 11. Management of HS, in children and adults, may be difficult because of its chronic nature and lack of response to standard therapeutic options, and there is little evidence of the efficacy of the different treatments in randomized clinical trials or after long-term followup. Among all therapies, botulinum toxin A (BTX) has been regarded as effective for isolated case reports of adult-onset HS. Recently, we succeeded in treating a case of prepubertal HS with BTX, which to our knowledge has not previously been described.

Nodular lesions arising in a large congenital melanocytic naevus in a newborn with eruptive disseminated Spitz naevi.

Congenital malignant melanoma within a pre‐existing large congenital melanocytic naevus (CMN) is exceedingly rare. Its incidence is difficult to determine due to the small number of reported cases and because of problems associated with diagnosis. Some benign nodular proliferations (called proliferative nodules) arising in CMN, while rare, are significantly more common and can mimic malignant melanoma clinically or histologically. There are no reported cases of congenital melanoma or benign proliferative nodules in CMN in patients who also had eruptive disseminated Spitz naevi. We describe a girl who was noted to have a dark‐brown plaque with several large erythematous nodules affecting the scalp at delivery, in addition to multiple erythematous dome‐shaped papules that developed in a disseminated manner over several months, beginning at 10 days of age. It was difficult, not only clinically but also histologically, to determine the benign or malignant nature of all of these lesions. As primary cutaneous melanoma, atypical proliferative nodules in CMN, bland CMN or CMN with foci of increased cellularity and Spitz naevi show clear differences in the genetic aberration patterns, comparative genomic hybridization (CGH) could be a diagnostic help in ambiguous cases such as this. CGH performed on this patient showed multiple DNA copy number changes in the most atypical nodule, but such alterations could not be found in the remainder of the lesions. CGH showed differences between the nodular lesions that occurred in the CMN and helped us in supporting the diagnosis of this unique case of benign proliferative nodules and a possible congenital melanoma arising in a large CMN, associated with multiple widespread eruptive Spitz naevi.

Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin-Goltz syndrome

BACKGROUND Gorlin-Goltz syndrome (GGS) is an autosomal-dominant disease characterized by the early onset of multiple basal cell carcinomas (BCCs), among other findings. Clinically, the BCCs may appear as soft pedunculated neoplasms that can be mistaken for true acrochordons. OBJECTIVE We sought to describe the dermatoscopic characteristics of small acrochordon-like or polypoid BCCs in a child with GGS, and to perform histopathologic correlation. METHODS Acrochordon-like growths from a child with GGS were studied. Clinical records and digital dermatoscopic images were collected, and excision and histopathologic examination of the most representative lesions were performed. RESULTS Some acrochordon-like lesions showed specific dermatoscopic criteria for BCC, including multiple blue-gray globules and arborizing telangiectasia. Other polypoid lesions, especially the smaller ones, exhibited characteristics that suggested BCC, such as isolated blue-gray globules, small blue-gray ovoid nests, and fine elongated telangiectases. LIMITATIONS Conclusions are limited by the small sample size. CONCLUSION Dermatoscopy may be a useful diagnostic tool to analyze acrochordon-like lesions in children and to facilitate early diagnosis and treatment of BCCs in patients with GGS.

Amiloidosis cutánea primaria localizada nodular con patrón diseminado

Resumen El amiloide es un material proteinaceo que se deposita en los tejidos en una gran variedad de situaciones clinicas; en la piel puede ser hallado con o sin afectacion sistemica concomitante. La amiloidosis cutanea primaria localizada designa a aquellas amiloidosis con afectacion exclusivamente cutanea, sin afectacion a otros niveles. Las formas mas comunes dentro de este grupo son la amiloidosis macular y el liquen amiloideo. La amiloidosis nodular es extremadamente infrecuente y mantiene importantes diferencias clinicas, pronosticas, histologicas y patogenicas con respecto a las variantes macular y liquenoide. Presentamos un nuevo caso de amiloidosis cutanea primaria localizada nodular con placas y nodulos diseminados, que no desarrollo afectacion sistemica tras tres anos desde el debut de las lesiones.

Cutaneous Graft versus Host Disease in Pediatric Multivisceral Transplantation

Abstract:  Multivisceral transplantation (MvTx) is the concurrent transplantation of the stomach, pancreaticoduodenal complex, and intestine, with or without the liver. Its use is increasing worldwide as it has been considered as a therapy for patients with functional disturbance of several organs. Graft‐versus‐host disease (GvHD) has been a relevant clinical problem in MvTx ever since the procedure was first performed, but little has been reported about its specific cutaneous features. Our study included all pediatric patients with clinical and histopathologic evidence of cutaneous GvHD who received MvTx between October 1999 and December 2010 in University Hospital La Paz. Seventeen children underwent MvTx at our center during this period of time. Five patients developed cutaneous GvHD (29.4%). The median onset was 45.2 days after transplantation. Acute cutaneous GvHD, consisting of symmetrical maculopapular exanthema with prominent acral erythema and accentuated lesions on the face and pinnae, was clinically suspected and pathologically confirmed in four patients (80%). Three children (60%) experienced disease progression to a formation and a positive Nikolsky sign. Only one girl (20%) showed lichenoid GvHD. The first therapeutic approach was steroids and tacrolimus adjustment; many other drugs were used in refractory cases. Three of the five patients (60%) died with concomitant GvHD, the immediate cause of death being another comorbid disease. Knowledge of the features of cutaneous GvHD in MvTx allows clinicians early recognition and prompt therapeutic intervention that may prevent progression to higher‐grade disease and improve outcomes for these patients.

Disseminated nodular primary localized cutaneous amyloidosis

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions.

Incontinentia Pigmenti: Three New Cases That Demonstrate it is not Only a Matter of Women

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 % of the cases. The diagnosis of incontinentia pigmenti is performed based on clinical features and family history with the support of histological findings. Nevertheless, as the gene responsible for the phenotype of the disease has been identified, a genetic study may be employed for doubtful cases. We report three cases of this entity (two women and one man) in different clinical stages of development that show the broad clinical spectrum we may encounter in the clinic.

Incontinentia pigmenti: tres nuevos casos que demuestran que no es sólo cosa de mujeres

Resumen La incontinentia pigmenti es una genodermatosis infrecuente con caracter multisistemico que sigue un patron de herencia dominante ligado a X, por lo que resulta letal en la mayoria de varones afectados intrautero y muestra gran variabilidad clinica cuando se expresa en mujeres. Recientemente se ha encontrado que las mutaciones del gen NEMO/IKK-g localizado en Xq28 causan la expresion de la enfermedad, siendo una unica mutacion la responsable de aproximadamente un 80 % de los casos. La incontinentia pigmenti interesa a varias especialidades medicas, aunque son la clinica cutanea y la historia familiar las que marcan el diagnostico, ayudadas de los hallazgos histologicos. No obstante, la identificacion reciente del gen responsable del fenotipo de la enfermedad permite la resolucion de muchos casos dudosos mediante estudio genetico. Presentamos a continuacion tres nuevos casos de esta patologia (dos mujeres y un varon) en diferentes estadios evolutivos, que muestran el amplio espectro clinico con el que esta patologia puede llegar a nuestra consulta.

Mucositis Secondary to Chlamydia pneumoniae Infection: Expanding the Mycoplasma pneumoniae -Induced Rash and Mucositis Concept

The term Mycoplasma pneumoniae–induced rash and mucositis (MIRM) was recently proposed to identify the mucocutaneous condition secondary to M. pneumoniae infection that had historically been regarded among the more confusing pathologies of erythema multiforme and Stevens–Johnson syndrome. Based on a number of previous reports, these syndromes require differentiation since they have different prognoses and specific treatment requirements. We report a case of oral and genital erosions that strongly resembled MIRM without rash but were found to be secondary to a Chlamydia pneumoniae infection. After a thorough review of the literature on this subject, we propose that C. pneumoniae should also be considered a potential causative agent of MIRM and that this term should be amended to include C. pneumoniae infection.

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self‐healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self‐improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB/SICI was initially associated with mutations in the gene TGM1. However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported. We report two cases of SHCB/SICI showing homozygous mutations in the gene CYP4F22.