From Classical to Unusual: Report on 5 Cases of Transient Reactive Aquagenic Pseudokeratoderma and Review of the Literature.

Transient reactive aquagenic pseudokeratoderma is characterized by transient whitish and translucent papules after water exposure in palms and soles. We report 5 additional cases and their histopathologic features. Patient 5 showed a topography that had not been reported before; this demonstrates that it is not an exclusive condition of palms and soles. Patient 2 presents very subtle clinical findings, making difficult the diagnosis. And the other 3 patients have a typical presentation. Transient reactive aquagenic pseudokeratoderma has heterogeneous clinical features; in some cases, histopathologic findings, although subtle, help to confirm the diagnosis.

Congenital Milia En Plaque.

Milia en plaque is a rare, benign, localized, entity typically seen in adults after the third decade of life. Although there have been a few cases described in children, we describe the first case in a newborn.

Congenital onychogryphosis: Leaning Tower nail.

A 45-year-old man presented with a thickened and raised nail of his left fifth finger since birth. He was otherwise healthy. On examination, the nail of the left little finger was markedly thickened, hyperkeratotic, and situated at an angle of approximately 45 degrees to the long axis of the distal phalanx. There was prominent subungual hyperkeratosis. A diagnosis of congenital onychogryphosis of the little finger of idiopathic nature was considered. Visual analogy to the leaning tower of Pisa encouraged us to describe it as congenital leaning tower nail.

Unusual and recently described cutaneous atrophic disorders.

Cutaneous atrophic conditions are typically caused by changes in the dermis or subcutaneous tissue, sometimes consisting of the loss of a single fiber type. Since a significant decrease of subepidermal tissue is necessary for these lesions to be macroscopically atrophic, many conditions may not be appreciated as atrophy in the clinical setting. Clinicians should be familiar with the common or classic disorders causing cutaneous atrophy; however, there are a few new or rarely described atrophic conditions which are more difficult to identify and may not be atrophic clinically. This paper serves to describe the salient clinical and histological features of these new or rare disorders.

JAAD Grand Rounds quiz. Linear and whorled hyperkeratosis in a newborn.

LEARNING OBJECTIVES: At the conclusion of this learning activity, physician participants should be able to assess their own diagnostic and patient management skills and use the results of this exercise to help determine personal learning needs that can be addressed through subsequent CME involvement. Instructions for claiming CME credit appear in the front advertising section. See last page of Contents for page number. Instructions: In answering each question, refer to the specific directions provided. Because it is often necessary to provide information occurring later in a series that gives away answers to earlier questions, please answer the questions in each series in sequence.

[The first article in the Journal Actas Dermo-Sifiliográficas published with photographs: malignant keratosis diffusa fetalis (Fetal ichthyosis, congenital maligna keratoma, etc.)]. / El primer artículo con fotografías de la revista Actas Dermo-Sifiliográficas: Hiperkeratosis universal congénita maligna. (Ictiosis fetal; keratoma maligno congénito, etc.), por juan de azúa.

Brief comment is made on the first article published in the journal Actas Dermo-Sifiliográficas with photographic documentation of the case history and histological findings. It was written by the founder of the journal, Dr. Juan de Azúa, in 1909.

Ictiosis congénita grave / Severe congenital ichthyosis

La ictiosis es un raro trastorno que fue descrito por primera vez en 1750 por el reverendo Oliver Hart, en los Estados Unidos. Se presenta el caso de un feto del sexo masculino con aspecto externo de genodermatosis extrema compatible con ictiosis congénita grave, conocida como feto de arlequín. Se realizó la caracterización clínica y anatomopatológica de la enfermedad y se ofrece una revisión sobre esta rara genodermatosis que tiene un patrón de herencia autosómico recesivo y para la cual no existe ningún tratamiento exitoso, por lo que resulta una enfermedad letal. Se ofrecen resultados de la necropsia y se presentan fotografías del caso.

Ichthyosis is a rare disorder first described in 1750 by Reverend Oliver Hart in United States. Authors present a case of male fetus with external aspect of extreme genodermatosis, compatible with severe congenital ichthyosis, known as "Harlequin fetus". We performed a clinical and anatomical-pathologic characterization of disease, and it is offered a review on this rare genodermatosis with a heritance autosomal recessive pattern and for which there is not successful treatment, thus, it is lethal disease. Necropsy finding are offered as well as case photos.

Self-healing congenital verruciform hyperkeratosis.

We report on an apparently previously undescribed neonatal diffuse congenital hyperkeratosis with spontaneous improvement. The child, born to consanguinous parents, presented at birth with a verrucous hyperkeratosis involving face, trunk, and limbs, but sparing palms and soles. No visceral or skeletal abnormality was associated and neurosensory status was normal. The skin condition improved dramatically during the first month of life. At age 7 years, the child was healthy with normal psychomotor development and growth. He had an abnormal curvature of nose, ulerythema ophryogenes, and large ears. The skin was moderately dry. This favorable clinical outcome led us to propose the term "regressive congenital hyperkeratosis" until further molecular characterization of this new phenotype.

Olmsted syndrome--a rare syndrome with oral manifestations.

Olmsted syndrome is a rare, congenital condition characterized by severe palmo-planter keratosis, periorificial keratosis, and hypotrichosis. Though orofacial keratosis is one of the consistent findings of Olmsted syndrome, it has never been reported in the dental literature. We report a case of Olmsted syndrome in an eight-year-old boy who presented with massive and crippling palmoplanter keratosis and bilateral oral lesions in the form of keratotic plaques at the corners of the mouth, as well as on the dorsum of the tongue.

[Another indication for (erythro)keratodermia variabilis in livestock in the case of a neonatal lamb]. / Ein weiterer Hinweis auf (Erythro)keratodermia variabilis bei Nutztieren am Beispiel eines Schaflammes.

From skin biopsies of a neonatal lamb a congenital skin disease (erythro)keratodermia variabilis was diagnosed which especially showed besides an erythema formation a hyperkeratosis at some wound areas of the body. Despite of a sudden induced intensive therapy the lamb died. At the dissection of the carcass there were no further postmortem-findings which refer to another organic disease than the one of the skin. This case report is the second description of (erythro)keratodermia variabilis in domestic mammals, which is caused by an autosomal dominant inherited horning defect in humans.

Pachyonychia congenita, type II.

A 5-year-old girl presented with extensor hyperkeratotic papules and subungual hyperkeratosis with nail-plate discoloration affecting all twenty nails. The mother reported that her daughter had natal teeth. By report, the father has a similar history and constellation of clinical findings. The patient's clinical presentation and history was consistent with pachyonychia congenita, which is a genodermatosis linked to mutations in the genes encoding keratins 6, 16, and 17.

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.

The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.

[Case report: (erythro)keratoderma variabilis in a newborn foal]. / Fallbericht: (Erythro)keratodermia variabilis bei einem neugeborenen Warmblutfohlen.

A case of congenital (Erythro)keratoderma variabilis in a newborn foal is described. The clinical and histological findings are presented.

Feto arlequin, presentación de un caso / Harlequin fetus, presentatios of a case

Presentamos el caso de una rara anomalía congénita debido a un desorden my severo de la querantinizació de la piel, caracterizado por una piel rígida y gruesa con agrietamiento profundos que la dividían en plcas, lo cual daba la apariencia de una figura arlequín. El nacimiento ocurrió en el Hospital Dr. LUis E. Aybar en Santo Domingo, República Dominicana, en una madre de 19 años GL, P I. La criatura pesó 1871 G, con una edad gestacional de 33 semanas

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita.

Eight patients with aplastic anaemia associated with dyskeratosis congenita received allogeneic marrow grafts from either HLA-identical siblings (six patients) or HLA-matched unrelated donors (two patients). Patients who received marrow from HLA-identical siblings were conditioned with cyclophosphamide (140-200 mg/kg), with or without antithymocyte globulin. Patients who received unrelated donor marrow were conditioned with cyclophosphamide (120 mg/kg) and total body irradiation (1200 cGy). The six patients who survived for >2 weeks following transplant all had haematological evidence of engraftment, and all three patients who survived for at least a year following transplant recovered normal haematological function. Three patients died with respiratory failure and pulmonary fibrosis at 70 d. 8 years and 20 years posttransplant; three patients died during the neutropenic period of invasive fungal infections; one patient died on day 44 of refractory acute graft-versus-host disease; and one patient remains alive 463 d following transplant. The surviving patient recently underwent surgical resection of a Dukes' stage C rectal carcinoma diagnosed 14 months posttransplant. The aplastic anaemia associated with dyskeratosis congenita can be successfully treated by allogeneic bone marrow transplantation; however, this approach does not reverse the other systemic manifestations of the syndrome. The pathogenesis of the intestinal lung disease observed in dyskeratosis congenita patients following marrow transplantation is not understood.