Aplasia Cutis Congenita and Intestinal Lymphangiectasia

Bronspiegel, Naomi

doi:10.1001/archpedi.1985.02140070083042

Cited by 29 publications

(10 citation statements)

References 13 publications

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“…The presence of pulmonary hypertension in the latter case may have complicated the clinical picture. Intestinal lymphangiectasia has been described in two sibs with cutis aplasia of the scalp but without limb defects [Bronspiegel et al, 1985]. Lymphatic abnormalities have also been reported in cutis marmorata telangiectasia congenita (CMTC) [Way et al, 1974], a cutaneous vascular abnormality that itself is a sign of AOS, further suggesting an association between AOS and the lymphatic system.…”

Section: Discussionmentioning

confidence: 99%

Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome

et al. 2000

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We describe cortical malformations in two siblings who also had features of Adams-Oliver syndrome (AOS, MIM 100300). The parents were first cousins and showed no signs of either disorder, suggesting autosomal recessive inheritance. Psychomotor delay was present in both sibs, and cerebral imaging was indicative of polymicrogyria (PMG). One sib had aplasia cutis congenita of the scalp and transverse limb defects, and the other had short fingers and toes and also developed lymphedema of the right leg. CNS abnormalities and lymphatic abnormalities are rare manifestations of AOS, and we suggest that these sibs have a rare variant of AOS with probable recessive inheritance.

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Section: Discussionmentioning

confidence: 99%

Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome

et al. 2000

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“…Other rare associations of IL are secretory diarrhea, enterocolitis cystica, and congenital hepatic fibrosis [12]. IL is also associated with aplasia cutis congenita [13]. Interestingly, one recent report [14] associates IL with gastrointestinal bleeding, particularly if IL is localized to the duodenum.…”

Section: Discussionmentioning

confidence: 99%

Infantile Intestinal Lymphangiectasia and Chylous Ascites in Saudi Arabia

Abdullah

Yohannan

et al. 1993

Ann Saudi Med

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Intestinal lymphangiectasia (IL) was first described by Waldman in 1966 [1]. It is characterized by proteinlosing enteropathy, hypoalbuminemia, hypoproteinemic edema and lymphopenia [2]. It is a rare condition. In one large study of 742 small intestinal biopsies done for various small intestinal diseases [3], only three children had intestinal lymphangiectasia. In 1991, Nazer et al reported three cases of intestinal lymphangiectasia which were masquerading as celiac disease [4]. The etiology is unknown, but it may be congenital, particularly if it occurs in early life [5].The aim of this paper is to alert pediatricians to the possibility of IL in children who present with protracted diarrhea, edema and chylous ascites. Case ReportsCase 1: A three-year-old Saudi female was originally referred to the hospital at the age of six months for investigation of persistent abdominal distention and generalized edema which were noted at birth. She is the first child of non-consanguineous parents.On examination, her weight was 6.15 kg (tenth percentile), height 60 cm (less than third percentile), and head circumference 41 cm (less than third percentile). She had generalized pitting edema and massive ascites. Other system examination was normal. Laboratory investigations showed normal CBC, serum protein 35 g/L (N 60-80 g/L), albumin 20 g/L (N35-50 g/L), normal serum immunoglobulin, normal female karyotype, and urine was free of protein. The macroscopic appearance of the peritoneal paracentesis showed whitish milky aspirate which is consistent with chylous ascites.The combination of generalized edema, chylous ascites, hypoproteinemia and hypoalbuminemia in the presence of normal urinalysis and normal liver enzymes alerted us to the possibility of intestinal lymphangiectasia, which was confirmed by small bowel biopsy ( Figure 1). The patient was started on a diet composed of medium chain triglyceride 1 g/kg/day, pregestimil milk and fat soluble vitamins. The edema and ascites improved. She was discharged four weeks later and at discharge, her weight was 5.5 kg.At the age of 24 months, she was readmitted for progressive abdominal distention and generalized edema for which she was subjected to exploratory laparotomy after a trial of medical therapy; at laparotomy, no surgical cause of lymphatic leak was found. Postoperatively, she was treated again with low fat diet and medium chain triglyceride and fat soluble vitamin supplements. At the age of three years, her total T cell count was low (42%), helper-to-killer T cell ratio was low (less than 23%), other T cell and B cell numeration was normal. Isotope splenic function test showed a hypofunctioning spleen. She was given pneumococcal vaccine and she is thriving. Case 2: A one-year-old female sibling of Case 1 was noticed to have abdominal distention from the age of nine days and was seen at our hospital. She had a history of protracted diarrhea with foul-smelling stool. On examination, her weight, height, and head circumference were 4.6 kg, 55 cm, and 38.5 cm respectively, all o...

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“…Bronspiegel (aplasia cutis congenita, IL, OMIM# 207,731; ORPHA1116) syndrome described by Bronspiegel in 1985 follows an autosomal recessive (AR) inheritance pattern. The authors describe a patient presenting at birth with aplasia cutis congenita and later on developed PLE.…”

Section: Background: the Knowns And Unknowns Of Intestinal Lymphangiementioning

confidence: 99%

CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease

Özen

2018

Immunological Reviews

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Summary Primary intestinal lymphangiectasia (PIL) or Waldmann's disease was described in 1961 as an important cause of protein‐losing enteropathy (PLE). PIL can be the sole finding in rare individuals or occur as part of a multisystemic genetic syndrome. Although genetic etiologies of many lymphatic dysplasia syndromes associated with PIL have been identified, the pathogenesis of isolated PIL (with no associated syndromic features) remains unknown. Familial cases and occurrence at birth suggest genetic etiologies in certain cases. Recently, CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and PLE (the CHAPLE syndrome) has been identified as a monogenic form of PIL. Surprisingly, loss of CD55, a key regulator of complement system leads to a predominantly gut condition. Similarly to other complement disorders, namely paroxysmal nocturnal and hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS), CHAPLE disease involves pathogenic cross‐activation of the coagulation system, predisposing individuals to severe thrombosis. The observation that complement system is overly active in CHAPLE disease introduced a novel concept into the management of PLE; anti‐complement therapy. While CD55 deficiency constitutes a treatable subgroup in the larger pool of patients with isolated PIL, the etiology remains to be identified in the remaining patients with intact CD55.

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Aplasia Cutis Congenita and Intestinal Lymphangiectasia

Cited by 29 publications

References 13 publications

Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome

Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome

Infantile Intestinal Lymphangiectasia and Chylous Ascites in Saudi Arabia

CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease

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