Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. This paper summarizes the findings of the first systematic study on the impact of hypohidrotic ectodermal dysplasia on breastfeeding. Patients Thirty-eight adult female members of the German-Swiss-Austrian ectodermal dysplasia patient support group participated in a structured interview; most of them also agreed to a photodocumentation of their mammary region. Thirty-one women carried mutations in EDA (Group A) and seven were affected by other forms of hypohidrotic ectodermal dysplasia (Group B). Results 39 % of the women of Group A reported that their breasts were of different size or entirely absent on one side. In Group B, 86 % of the women reported differently sized or even absent breasts; two of these women lacked both breasts entirely. Most women described their nipples as exceptionally flat. 10 % of the women of Group A had more than two nipples. The high percentage of deviations from the norm was confirmed in the photodocumentation. Both groups had few or no sebaceous glands of Montgomery in the areolar region. Around 80 % of interviewed women had children and had attempted to breastfeed their first child. 67 % of the mothers in Group A had had difficulty in breastfeeding their infants and generally attributed this difficulty to their flat nipples. All of the mothers in Group B reported difficulties in breastfeeding; 60 % had not been able to breastfeed their first child. Conclusion Mothers with hypohidrotic ectodermal dysplasia very often have difficulty in breastfeeding because of their impaired breast development. This causal relationship needs to be taken into account in lactation counseling.

Sonography of subcutaneous tissue cannot determine causes of lower limb edema.

BACKGROUND: To clarify the clinical use of sonography for differentiation of edema we tried to answer the question whether a group of doctors can differentiate lymphedema from cardiac, hepatic or venous edema just by analysing sonographic images of the edema. PATIENTS AND METHODS: 38 (70 ± 12 years, 22 (58 %) females) patients with lower limb edema were recruited according the clinical diagnosis: 10 (26 %) lymphedema, 16 (42 %) heart insufficiency, 6 (16 %) venous disorders, 6 (16 %) chronic hepatic disease. Edema was depicted sonographically at the most affected leg in a standardised way at distal and proximal calf. 38 sets of images were anonymised and send to 5 experienced doctors. They were asked whether they can see criteria for lymphedema: 1. anechoic gaps, 2. horizontal gaps and 3. echoic rims. RESULTS: Accepting an edema as lymphedema if only one doctor sees at least one of the three criteria for lymphatic edema on each single image all edema would be classified as lymphatic. Accepting lymphedema only if all doctors see at least one of the three criteria on the distal image of the same patient 80 % of the patients supposed to have lymphedema are classified as such, but also the majority of cardiac, venous and hepatic edema. Accepting lymphedema only if all doctors see all three criteria on the distal image of the same patients no edema would be classified as lymphatic. In addition we separated patients by Stemmers’ sign in those with positive and negative sign. The interpretation of the images was not different between both groups. CONCLUSIONS: Our analysis shows that it is not possible to differentiate lymphedema from other lower limb edema sonographically.