Congenital self-healing reticulohistiocytosis with spontaneous regression

Abstract: Congenital self-healing reticulohistiocytosis is a rare, benign, self-limiting variant of Langerhans cell histiocytosis (LCH). LCH encompasses a group of idiopathic disorders characterized by the clonal proliferation of Langerhans cells. Congenital self-healing reticulohistiocytosis typically appears at birth or in the neonatal period as isolated cutaneous lesions, often appearing as multiple crusted papules with no systemic findings. Although clinical features seem aggressive, the lesions tend to involute spontaneously within weeks to a few months leaving residual hypo or hyperpigmented macules. Timely diagnosis with histology, immunocytochemistry, and electron microscopic studies will eliminate unnecessary therapeutic interventions. Although mostly self-resolving, it carries a variable clinical course in some patients with cases of extracutaneous involvement and/or recurrences. Hence, reassurance and long-term follow-up play key roles in the management of this disease.

Síndrome de Adams-Oliver: presentación de un caso de expresión incompleta / Adams-Oliver syndrome: presentation of an Incompletely expressed case

El Síndrome de Adams-Oliver (SAO) es una genodermatosis infrecuente, con casos esporádicos y familiares, de herencia autosómica dominante, aunque la herencia autosómica recesiva también se ha demostrado, con expresividad variable intra e interfamiliar, caracterizada por la asociación de aplasia cutis congénita en cuero cabelludo, anomalías transversales de los miembros y cutis marmorata telangiectásico congénito. Presentamos el caso de un varón con SAO esporádico, de expresión incompleta, en el que se presentaron aplasia congénita cutis en el cuero cabelludo, cutis marmorata telangiectásico congénito generalizado, criptorquidia y alteración renal. El enfoque terapéutico en este caso fue multidisciplinario.

Circumferential skin folds in a child: a case of Michelin tire baby syndrome.

A six-month-old girl who presented with dermatitis was found to have multiple, symmetric, deep, gyrate skin folds involving her trunk and similar circumferential lesions on her extremities since birth. She had a characteristic round face with hypertelorism, depressed nasal bridge, thin, down-turned vermillion border of upper lip and short neck. Skin biopsy demonstrated increased smooth muscle fibers in the deeper dermis. A diagnosis of Michelin tire baby syndrome was made. Clinical features, histopathology, differential diagnosis and prognosis of this rare disorder have been discussed.

Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.

Study of mast cells in non-neoplastic skin lesions.

Sixty non-neoplastic skin lesions were studied for mast cells by toluidine blue stain. The highest numbers of mast cells were seen in the viral infections of the skin (50/mm2) and lowest number of mast cells in congenital diseases (17/mm2). Out of the cutaneous bacterial infections, highest numbers of mast cells were seen in leprosy (44/mm2) while in lupus vulgaris they were much less (37/mm2). In leprosy cases it was observed that as the lesions moved from indeterminate to both polar tuberculoid and lepromatous, the mast cell count increased. It could therefore be summarised that periodic follow-up of indeterminate and borderline lesions for mast cell count might help in predicting stability of lesions. In non-infectious squamous and papular lesions the mean mast cell count was 39/mm2. The highest numbers of mast cells in the non-infectious vesicular and bullous lesions were in bullous pemhigoid (57/mm2) and lowest in dermatitis (38/mm2).

Aplasia cutis congética y feto papiráceo / Congenital aplasia cutis and papiraceus fetus

La aplasia cutis congénita es definida como ausencia congénita de piel y anexos cutáneos. Afecta en un 80 por ciento el cuero cabelludo y en un 20 por ciento extremidades, tronco y nuca. Caso clínico. Se trata de un recién nacido masculino de 2,040 gramos de peso Apgar 9-9, 40 semanas por Capurro, producto de tercera gesta de madre de 33 años y padre de 35 años, no consanguíneos, ambos sanos; presenta áreas desprovistas de piel en ambos flancos de aproximadamente 12 x 10 centímetros, además de región superoexterna de ambos muslos y áreas ya cicatrizadas en rodillas, siendo todas simétricas; la placenta fue monocoriónica, biamniótica de aspecto normal con presencia de feto papiráceo el cual se observó completamante atrófico de 5.5 centímetros de longitud. Discusión. Requiere tratamiento inmediato para evitar sobreinfección bacteriana en las áreas afectadas, su pronóstico es favorable

Collodion baby syndrome: the definitive management

We report four cases of collodion baby managed by us in our Neonatal Intensive Care Unit in a two year period. This condition is stated to be rare, the precise incidence is not known. It may be frequent in this part of Saudi Arabia, due to consanguineous marriages. This hospital on average has 3000 deliveries per year. Early measures were taken to prevent dehydration, avoid infection and control temperature. Emollients in the form of propylene glycol in starch and vitamin A in zinc oxide cream were used successfully

Collodion baby: the out-come of long-term follow-up.

About 10 Thai collodion babies were treated at the Department of Pediatrics, Faculty of Medicine, Chulalongkorn University from 1970 to 1990. Most of them were premature and small for gestational age infants. The sex incidence of males to female was 3:2. Only half of the cases had a family history of ichthyosis. The severity of thickness and tightness of the collodion membranes varied from mild to severe. The clinical and histopathologic findings revealed 5 cases of lamellar ichthyosis (50%), of which one case had episodes of pustular psoriasis. One case evolved to be ichthyosis vulgaris 10 per cent, one case had palmoplantar hyperkeratosis (10%), one case had been apparently normal up to 18 years old, one died of respiratory infection and another case was lost from follow-up. All cases of lamellar ichthyosis were associated with mental retardation with some degree of slow physical development. One severe collodion baby suffered from congenital absence of distal phalanges of toes with increased thickness of the finger nails.